# Orviva > Orviva turns personal health data — genomics (23andMe, AncestryDNA, WeGene), methylation/epigenetic arrays, lab reports, medical imaging and CGM time-series — into structured, AI-ready JSON queryable with a single Bearer token. The chat assistant is named G2. All API endpoints require an Authorization: Bearer header (30-day JWT, bound to one health profile). Generate a key at https://orviva.ai/api-keys or via POST https://orviva.ai/api/auth/token. ## Docs - [API Guide (Markdown)](https://orviva.ai/guide.md): Full agent/crawler-facing API reference — endpoints, auth, data tiers, examples. - [API Guide (HTML)](https://orviva.ai/guide): Interactive version of the same reference. - [Everything in one file](https://orviva.ai/llms-full.txt): This index, the full guide, and every indicator encyclopedia entry as one Markdown document. ## Knowledge pages (public, no login) Plain-language, referenced reference pages behind every result Orviva produces. Hub: https://orviva.ai/learn (English) · https://orviva.ai/zh/learn (中文). - [Lab indicators](https://orviva.ai/learn/indicators): What each blood-test marker is, what high / low means, what moves the number. Bilingual. Entry pattern https://orviva.ai/learn/indicators/, e.g. /hba1c, /ldl_c, /alt. - [Pharmacogenomics](https://orviva.ai/learn/pharmacogenomics): CYP2C19, CYP2D6, CYP2C9, CYP1A2, NAT2 star alleles and phenotypes; CPIC guidance per drug (e.g. /cyp2c19/clopidogrel); HLA alleles (e.g. /hla-b-57-01). English. - [Genes](https://orviva.ai/learn/genes): One page per gene with described variants, e.g. /mthfr, /apoe. English. - [DNA variants](https://orviva.ai/learn/snps): Genotype-by-genotype explanations, e.g. /rs1801133, /rs429358. English. - [Epigenetics](https://orviva.ai/learn/epigenetics): Epigenetic clocks, age acceleration, methylation risk scores, EpiScores, immune-cell proportions, e.g. /dunedinpace. Bilingual. ## Key endpoints - GET https://orviva.ai/api/v1/health-data/profile: Compact conclusions-only health profile (~2-4KB). Recommended first call. Cache-safe. - GET https://orviva.ai/api/v1/health-data/full: All health records. Filter with ?category=, ?subcategory=, ?format=grouped. - GET https://orviva.ai/api/v1/health-data/risk-overview: Elevated risks, abnormal labs, and lab↔genomic cross-references. - GET https://orviva.ai/api/v1/health-data/supplement-guidance: Deterministic (no-LLM) ingredient-needs payload. - GET https://orviva.ai/api/v1/health-data/by-date?from=YYYY-MM-DD&to=YYYY-MM-DD: One-shot fan-out across all records for a date range. - POST https://orviva.ai/api/v1/health-data/upload: Upload a lab report, checkup, imaging, methylation CSV or CGM xlsx. - POST https://orviva.ai/api/v1/chat/stream: Talk to the G2 health assistant (Server-Sent Events). --- # Orviva API Guide — Connect Your AI Agent Orviva transforms your health data into structured, AI-ready JSON. Upload genomic data for SNP analysis, methylation β-value CSVs for biological-age clocks and epigenetic risk scores, health documents (lab reports, checkup results, medical imaging) for AI-powered parsing, CGM data for time-series analysis, or record daily metrics manually. All data is accessible programmatically for your AI agents. > This is the machine-readable Markdown edition of the Orviva API guide. The interactive version lives at https://orviva.ai/guide; a discovery index is at https://orviva.ai/llms.txt. ## Contents - [Quick Start](#quickstart) - [Data Tiers — Recommended Query Strategy](#data-tiers) - [Health Profile API (Primary Endpoint)](#health-profile) - [Genomic Data API](#genomic-api) - [Genomic Categories](#genomic-categories) - [Methylation / Epigenetic Data](#methylation) - [Methylation Samples (per-sample / compare)](#methylation-deep) - [Risk Overview & Cross-References](#risk-overview) - [Supplement Guidance (deterministic, no-LLM)](#supplement-guidance) - [Error Handling](#errors) - [Health Data Vault API — Agent Upload & Query](#vault-api) - [Time-Series API (CGM and beyond)](#timeseries) - [Date-Range Query (consolidated fan-out)](#by-date) - [Mobile & G2 Chat API](#mobile-chat) - [Contextual Health Advisory](#advisory) - [Daily Health Briefing](#briefing) - [Interventions API (read + delete only)](#interventions) - [Re-analyze vs Refresh](#reanalyze) - [Integration Tips](#tips) ## Quick Start - Step 1 — Upload & Analyze: Upload genetic data (23andMe, AncestryDNA, WeGene), methylation β-value CSVs (Illumina 450k / EPIC / WeGene epigenetic), health documents (lab reports, checkup results, imaging reports), or CGM data (Sibionics xlsx). Each data type is parsed into structured indicators; methylation files are scored against 5 epigenetic clocks (Horvath / Hannum / PhenoAge / GrimAge / DunedinPACE), 2 methylation risk scores (AHRR smoking, Epi-CRP) and a 6-cell Houseman deconvolution via a pure Node.js math pipeline (no LLM). - Step 2 — Generate an API key: Create a profile-scoped Bearer token from the API Keys page, or call POST /api/auth/token with email + password to get a token directly. Each key can be labelled (e.g. 'iPhone', 'Claude Agent') for easy management. - Step 3 — Query via API: Start with the Health Profile endpoint for a compact overview (~2-4KB), then drill down into specific categories as needed. Your AI agent gets structured health data instantly. > Machine-readable copies of this guide are always available regardless of User-Agent: this same document as Markdown at https://orviva.ai/guide.md, and a discovery index at https://orviva.ai/llms.txt. Agents can fetch either directly with no HTML/JS rendering required. ## Data Tiers — Recommended Query Strategy Orviva organizes health data into three tiers for efficient agent usage. Start with Tier 1 and drill down only when needed. | Tier | Name | Endpoint(s) | Size | Usage | | --- | --- | --- | --- | --- | | Tier 1 | Health Profile | /health-data/profile | ~2-4KB | Conclusions only — risk levels, metabolizer status, abnormal flags, medical findings summary. Safe to cache across sessions. Recommended start. | | Tier 2 | Detailed Records | /health-data/full, /health-data/risk-overview | ~50-500KB | Specific genotypes, SNPs, lab values, cross-references, CGM time-series. Use per-session, do not persist. | | Tier 3 | Raw Data | Website only | MB+ | Original genetic files, full analysis JSON, raw CGM readings. Never enters agent context. | ## Health Profile API (Primary Endpoint) - `GET /api/v1/health-data/profile` Returns a compact, conclusions-only health profile (~2-4KB). This is the recommended first call for any agent session. Contains APOE genotype, CYP450 metabolizer status, HLA carrier status, elevated health risks, drug sensitivities, nutrition flags, abnormal lab indicators, ALL medical findings (imaging, physical exam, functional tests) grouped by category, an epigenetic block (latest methylation snapshot), and auto-generated suggested focus areas. > Cache-friendly: contains no raw genetic data (no rs-IDs, no genotypes, no SNP details), so it is safe for agent memory and cross-session reference. Medical findings include ALL examination results (normal and abnormal), sorted newest first. The `finding` field preserves the original language from the medical report. The `epigenetic` block is null when no methylation data is present. ```bash curl -s "https://orviva.ai/api/v1/health-data/profile" \ -H "Authorization: Bearer $ORVIVA_API_KEY" ``` ```json { "_format": "gene2ai-health-profile-v1", "dataCoverage": { "genomicMarkers": 324, "labIndicators": 247, "medicalFindings": 18, "cgmDays": 14 }, "genomicHighlights": { "apoe": "APOE ε3/ε4 — Increased (1 copy of ε4)", "cyp450": [ { "gene": "CYP2D6", "status": "Normal Metabolizer", "affectedDrugs": [] } ], "elevatedRisks": [ { "condition": "Alzheimer's Disease", "risk": "elevated", "note": "..." } ], "drugSensitivities": [ { "drug": "Warfarin", "sensitivity": "increased" } ], "nutritionFlags": [ { "nutrient": "Vitamin D", "note": "..." } ] }, "abnormalIndicators": [ { "name": "LDL Cholesterol", "value": 3.8, "unit": "mmol/L", "flag": "high" } ], "medicalFindings": { "imaging": [ ... ], "physical_exam": [ ... ], "functional_test": [ ... ] }, "medicalFindingsSummary": { "total": 18, "abnormal": 4, "byCategory": { ... } }, "epigenetic": { "clocks": { ... }, "ageAccelerations": { ... }, "mrs": { ... }, "cellProportions": { ... }, "qc": { ... } }, "suggestedFocusAreas": [ "Alzheimer's risk management (APOE ε4 carrier)", ... ] } ``` ## Genomic Data API - `GET /api/v1/genomics/:jobId` > The /health-data/full?category=genomic endpoint is preferred — it returns enriched, parsed data and supports filtering/grouping. This legacy endpoint is maintained for backward compatibility. Authentication: API keys are JWT Bearer tokens valid for 30 days, each bound to a specific health profile. Generate them from the API Keys page, or call POST /api/auth/token to get a token programmatically with email + password. ```bash curl -X GET "https://orviva.ai/api/v1/genomics/YOUR_JOB_ID" \ -H "Authorization: Bearer YOUR_API_KEY" ``` ## Genomic Categories Genomic data is organized into 9 subcategories. When querying with ?category=genomic, each record includes a parsed `data` field with structured objects. Use ?format=grouped to get records organized by subcategory. **Subcategories** - `health_risk` — 193+ markers — disease risk assessments (CFTR, Alzheimer's, CAD, T2D, etc.) grouped by condition/gene with SNP-level detail. Risk levels: low, average, slightly_elevated, elevated, high. - `drug_response` — 61+ markers (PharmGKB + CPIC) — pharmacogenomic predictions for Warfarin, Clopidogrel, SSRIs, Codeine, Tamoxifen with gene-level dosing recommendations. - `cyp450` — CYP450 metabolizer phenotyping — CYP2C19/CYP2D6/CYP2C9 with CPIC star allele definitions and drug recommendations. Statuses: Ultrarapid, Normal, Intermediate, Poor Metabolizer. - `hla` — 9 alleles — HLA allele typing via tag SNP inference for immune-related conditions and drug hypersensitivity (celiac, psoriasis, ankylosing spondylitis, SJS/TEN). - `apoe` — APOE genotyping — ε2/ε3/ε4 allele determination for Alzheimer's and cardiovascular risk (rs429358, rs7412). - `trait` — 21+ markers — hair color, skin pigmentation, caffeine metabolism, alcohol flush, lactose tolerance, muscle fiber type. - `nutrition` — 32+ markers — Vitamin D, Folate/MTHFR, B12, Omega-3, Iron, Calcium needs based on genetic variants. - `ancestry` — Regional ancestry percentages from population-specific variant analysis. - `meta` — Analysis metadata — data source, total variants analyzed, API version, timestamp. ```bash curl "https://orviva.ai/api/v1/health-data/full?category=genomic&subcategory=cyp450&format=grouped" \ -H "Authorization: Bearer YOUR_API_KEY" ``` ## Methylation / Epigenetic Data Upload a CSV of CpG β-values (probeId,beta columns, ~270k–860k rows from Illumina 450k / EPIC arrays or WeGene methylation exports). Orviva runs a pure Node.js math pipeline — no LLM — and returns clock ages, risk scores, immune cell composition and QC. - 5 epigenetic clocks: Horvath, Hannum, PhenoAge, GrimAge, DunedinPACE (years / pace). - 3 age accelerations: Horvath / PhenoAge / GrimAge age − chronological age (years). - 2 methylation risk scores: AHRR smoking-exposure MRS, Epi-CRP chronic-inflammation predictor. - 6-cell immune composition: CD4⁺ T, CD8⁺ T, NK, B, monocytes, granulocytes via Houseman NNLS reference deconvolution. - Multi-dimensional sample QC: probe-count gate (≥ 250K), β-value SD / intermediate-fraction distribution checks, Houseman residual, detection-p failure rate, predicted sex via X-chromosome panel with three-way cross-check against genomic chrY + self-reported sex. - 3–6 plain-language findings linked to clinical indicators (CRP, APOE, TC, HBA1C, WBC) for cross-domain interpretation. - `POST /api/v1/health/documents/upload` — Upload the β-value CSV with category=methylation. - `GET /api/v1/health-data/full?category=methylation&format=grouped` — Retrieve derived indicators. ```bash curl -X POST "https://orviva.ai/api/v1/health/documents/upload" \ -H "Authorization: Bearer $ORVIVA_API_KEY" \ -F "file=@methylation_beta_values.csv" \ -F "category=methylation" \ -F "title=Sep 2026 EPIC array" ``` > Indicator codes produced: HORVATH_DNAM_AGE, HANNUM_DNAM_AGE, PHENOAGE, GRIMAGE, DUNEDINPACE, AGE_ACCEL_HORVATH / _PHENOAGE / _GRIM, METHYL_SMOKING_MRS, METHYL_CRP_MRS, METHYL_CD4T / _CD8T / _NK / _BCELL / _MONO / _GRAN, METHYL_DETECTION_FAIL_PCT, METHYL_SAMPLE_SEX_PRED. A compact snapshot is also embedded in /health-data/profile under the `epigenetic` key. ## Methylation Samples (per-sample / compare) Four dedicated endpoints let your agent inspect every methylation sample the user has uploaded and compare them longitudinally. All values come from the same Node.js math pipeline (no LLM). - `GET /api/v1/health-data/methylation/latest` — Most recent epigenetic snapshot — clocks, age accelerations, MRS, immune cell proportions, QC. - `GET /api/v1/health-data/methylation/samples` — List every methylation sample with documentId, sample date, parseStatus, clock count, indicator count. - `GET /api/v1/health-data/methylation/samples/:documentId` — One sample's full snapshot. Use ?cpgs=true to receive a pointer to the per-CpG endpoint. - `GET /api/v1/health-data/methylation/compare?a=DOC_A&b=DOC_B` — Per-clock and per-MRS deltas between two samples. ```bash # Compare two methylation samples — newest vs baseline curl "https://orviva.ai/api/v1/health-data/methylation/compare?a=DOC_NEW&b=DOC_BASELINE" \ -H "Authorization: Bearer $ORVIVA_API_KEY" ``` > Per-CpG β-values remain on GET /api/v1/health/methylation/indicator/:code?documentId=... — those payloads can run into tens of thousands of rows, so keep them out of agent memory and only fetch on demand. EpiScore codes (Gadd 2022) available on samples processed by the latest pipeline: METHYL_ADIPONECTIN_EPISCORE, METHYL_SHBG_EPISCORE, METHYL_MPO_EPISCORE, METHYL_MMP9_EPISCORE, METHYL_TNFRII_EPISCORE, METHYL_RESISTIN_EPISCORE, METHYL_VCAM1_EPISCORE, METHYL_B2M_EPISCORE. ## Risk Overview & Cross-References - `GET /api/v1/health-data/risk-overview` — Elevated genomic risks, abnormal lab values, and cross-references between lab indicators and genomic markers. - `GET /api/v1/health-data/genomic-links/:code` — Genomic markers related to a specific lab indicator. Supported codes: TC, TG, LDL-C, HDL-C, SBP, DBP, FBG, HbA1c, BMI, UA, TSH, FT3, FT4, ALT, AST, GGT, ALP, TBIL, SCr, BUN, WBC, HGB, PLT, CRP. Cross-references enable insights like: "Your LDL is high AND you have genetic variants in LDLR associated with familial hypercholesterolemia." ```python response = requests.get( "https://orviva.ai/api/v1/health-data/risk-overview", headers={"Authorization": "Bearer YOUR_API_KEY"} ) overview = response.json() for ref in overview["crossReferences"]: lab = ref["labIndicator"] print(f"{lab['name']} ({lab['flag']}) -> {ref['relatedGenomicCount']} genomic markers") ``` ## Supplement Guidance (deterministic, no-LLM) - `GET /api/v1/health-data/supplement-guidance` Runs the user's genomic markers, CYP450 metabolizer status, lab indicators, and elevated health risks through a deterministic nutrient knowledge base (gene → nutrient, CYP450 → supplement-interaction, risk → ingredient). No LLM call, so the output is reproducible and auditable — designed for partner APIs and agent function calling. Payload format: orviva-supplement-guidance-v1 (~5-15KB). Supports ?profileId=. **Payload shape** - `ingredientNeeds` — Prioritized ingredient list (0-100), each with sources (gene/SNP, lab indicator, cross-ref), dose range, supporting ingredients, monitor indicators. - `pathwayProfiles` — Methylation, detox, lipid, etc. with status (impaired / partially impaired / normal) and affected genes. - `supplementInteractions` — CYP450-specific cautions (e.g. reduced-function CYP2C19 + St John's Wort). - `riskNutrientMap` — Elevated health risks paired with the ingredients that target them. - `contraindications` — Hard avoid list driven by genomic markers + active interventions. - `matchingMetadata` — Flat keyword arrays for product-catalog joins. ## Error Handling | Status | Code | Description | | --- | --- | --- | | 401 | missing_token | No Authorization header provided | | 401 | invalid_token | The API key is malformed or invalid | | 403 | token_expired | API key has expired (30-day limit) | | 403 | key_revoked | API key was manually revoked | | 403 | job_id_mismatch | Key not authorized for this job | | 404 | job_not_found | The specified job does not exist | | 404 | data_not_available | Analysis not yet complete | ## Health Data Vault API — Agent Upload & Query Orviva stores and manages all your health records — lab reports, checkup results, medical imaging, CGM time-series, and self-reported metrics. These endpoints let your AI agent upload documents, submit structured data, and query the complete health profile. All use profile-scoped API keys (Bearer token). Each key is bound to one health profile at creation time; the ?profileId= query parameter can override it for advanced use cases. - `POST /api/v1/health-data/upload` — Upload a PDF/image/xlsx. Form fields: file (required); category (lab_result, checkup, medical_record, imaging, methylation, cgm); title; documentDate (YYYY-MM-DD); source (openclaw, telegram, …); profileId (optional). Triggers AI parsing; checkup PDFs auto-extract imaging pages into separate imaging documents. - `GET /api/v1/health-data/doc/:id` — Poll parsing status. When status=completed the response includes extracted records with indicator names, values, units, reference ranges, and abnormal flags. - `POST /api/v1/health-data/records` — Submit structured health records directly — ideal for user-reported metrics (BP, blood sugar, weight) or data the agent extracted from conversation. - `GET /api/v1/health-data/profile` — Compact health profile (~2-4KB). Conclusions only. Recommended starting point. Supports ?profileId=. - `GET /api/v1/health-data/summary` — Overview with document/record counts by category + genomic subcategory breakdown. - `GET /api/v1/health-data/full` — All health records. Params: ?category=genomic|methylation|lab_result|checkup|self_reported|medical_record|imaging|cgm, ?subcategory=…, ?format=grouped, ?profileId=. - `GET /api/v1/health-data/delta?since_version=N` — Incremental changes since a version number, for efficient sync. - `GET /api/v1/health-data/risk-overview` — Comprehensive risk dashboard with cross-references. - `GET /api/v1/health-data/genomic-links/:code` — Genomic markers related to a lab indicator (e.g. LDL-C → cholesterol genes). - `GET /api/v1/health-data/search?q=…` — Search across the user's health records. Params: ?q= (required), ?category=, ?page=, ?pageSize= (default 20). - `GET /api/v1/health-data/by-date?from=YYYY-MM-DD&to=YYYY-MM-DD` — One-shot fan-out across documents / records / findings / time-series for a date range. See Date-Range Query. - `GET /api/v1/health-data/supplement-guidance` — Deterministic ingredient-needs payload (no LLM). - `GET /api/v1/health-data/export` — Self-contained JSON with built-in AI instructions, cross-references, and trends. Params: ?scope=full|genomic|lab_checkup, ?anonymize=, ?includeRawRecords=, ?timeRange=all|1y|2y. Multi-profile (family health): manage data for multiple family members under one account via GET/POST /api/v1/health/profiles and PUT/DELETE /api/v1/health/profiles/:id, then assign uploads and records to a specific profileId. ```bash # Create a profile for a family member curl -X POST "https://orviva.ai/api/v1/health/profiles" \ -H "Authorization: Bearer YOUR_API_KEY" \ -H "Content-Type: application/json" \ -d '{"name": "Mom", "relationship": "mother", "gender": "female", "birthYear": 1965}' ``` > CGM & imaging: upload Sibionics CGM xlsx with category=cgm (TIR, GMI, average glucose, variability, daily trends are computed automatically). Checkup report PDFs auto-detect medical imaging pages (B-ultrasound, CT, X-ray, MRI, ECG) and create separate linked imaging documents — one report can produce N+1 documents. ## Time-Series API (CGM and beyond) Dedicated agent-facing surface for high-frequency time-series data (CGM today, more device types as the parser registry grows). Returns first-class stream objects with raw points, daily summaries, and period (TIR / GMI / variability) summaries. Each response carries a persistenceAdvice hint (tier, refreshInterval, description) so your agent can decide what to cache vs re-fetch. - `POST /api/v1/health-data/timeseries/upload` — Multipart upload (xlsx / xls / csv, ≤ 50MB). Detects device + data category, returns streamId + pollUrl while async processing runs. - `GET /api/v1/health-data/timeseries/streams` — List streams with period summary attached (TIR, GMI, mean glucose, CV%). - `GET /api/v1/health-data/timeseries/streams/:id` — One stream: device metadata, daily summaries, period summary. Use for stream detail polling. - `GET /api/v1/health-data/timeseries/daily?dataCategory=glucose` — Daily summaries across all of the user's streams for a given dataCategory (default: glucose). ```bash # 1. Upload a Sibionics CGM export curl -X POST "https://orviva.ai/api/v1/health-data/timeseries/upload" \ -H "Authorization: Bearer $ORVIVA_API_KEY" \ -F "file=@sibionics_cgm.xlsx" \ -F "timezone=Asia/Shanghai" # 2. Poll until status === "ready", then pull cross-stream daily glucose curl "https://orviva.ai/api/v1/health-data/timeseries/daily?dataCategory=glucose" \ -H "Authorization: Bearer $ORVIVA_API_KEY" ``` ## Date-Range Query (consolidated fan-out) - `GET /api/v1/health-data/by-date?from=YYYY-MM-DD&to=YYYY-MM-DD` One call to answer "what happened in March?". Fans out across documents, records, findings, and (optionally) time-series daily summaries within [from, to]. Saves the agent from chaining 4+ separate requests and filtering client-side. Response carries top-level counts (documents, records, findings, per-category). **Query params** - `from` — YYYY-MM-DD (required, inclusive). - `to` — YYYY-MM-DD (required, inclusive). Max span: 2 years. - `date` — YYYY-MM-DD shortcut — sets from = to = date. - `categories` — CSV: lab_result,checkup,imaging,methylation,cgm,… - `includeTimeSeries` — false to skip daily summaries (default: true). - `pageSize` — Per-table cap, default 200, max 1000. - `profileId` — Override the key's default profile. ## Mobile & G2 Chat API Access G2 (the built-in AI health assistant) from mobile apps or external clients. All chat endpoints support Bearer token authentication — the same tokens used for health data APIs. - `POST /api/auth/token` — Mobile login — get a Bearer token with email + password + optional label. No browser/cookie needed. - `POST /api/v1/chat/stream` — Send a message to G2, receive a streaming response via Server-Sent Events. Pass sessionId to continue a conversation. SSE events: session, token, tool_start, tool_result, done. - `GET /api/v1/chat/sessions` — List chat sessions. - `GET /api/v1/chat/sessions/:id/messages` — Get message history for a session. - `PUT /api/v1/chat/sessions/:id` — Rename a session. - `DELETE /api/v1/chat/sessions/:id` — Delete a session. ```bash # Login and get a Bearer token curl -X POST "https://orviva.ai/api/auth/token" \ -H "Content-Type: application/json" \ -d '{"email": "user@example.com", "password": "your_password", "label": "My iPhone"}' # Stream a chat message to G2 curl -N "https://orviva.ai/api/v1/chat/stream" \ -H "Authorization: Bearer YOUR_API_KEY" \ -H "Content-Type: application/json" \ -d '{"message": "What are my recent lab results?"}' ``` > API keys are created, relabelled and revoked from the API Keys page in the Orviva web UI (first-party, cookie-authenticated). By design there is no Bearer-authenticated key-management endpoint — a token cannot mint or revoke other tokens. ## Contextual Health Advisory The most powerful capability: your AI agent acts as a health-aware layer, referencing the user's health profile when conversations touch health-adjacent topics. When the conversation touches medication, diet, exercise, sleep, or any health topic, the agent calls /health-data/profile and weaves relevant insights naturally into the response. The response should differ from what a generic AI would say, because the agent knows this specific user's genetic and clinical background. - Medication: check CYP450 status before discussing any drug. Poor CYP2D6 metabolizer → "Codeine won't work well for you — your genetics mean you can't convert it to its active form." - Diet & Nutrition: cross-reference nutritionFlags with abnormalIndicators. Vitamin D flag + low lab value → "Your genetics suggest reduced absorption, and your blood test confirms low levels." - Exercise: check muscle type traits, injury risk markers, and cardiovascular risk to tailor training. - Coffee & Caffeine: check CYP1A2 status. Fast metabolizer → "2-3 cups may benefit cardiovascular health." Slow → "Keep it before noon." ## Daily Health Briefing A bidirectional daily interaction: the agent summarizes the user's health status and encourages progress, then naturally prompts them to report a few easy-to-measure metrics. Everything is driven by the user's actual data — no fixed templates. Highlight 2-3 most relevant profile items, celebrate improvements, gently flag worsening trends, and connect genetic risk to current data. Ask for 1-2 metrics maximum per day, chosen by the user's risk profile, and explain why in terms of their specific profile. ## Interventions API (read + delete only) Track medications, supplements, treatments, and anti-aging protocols the user is on, along with each recorded dose / session. This is a single-write-path domain by design: create / update / discontinue / record-event all happen through G2 chat tools so every change has a conversational audit trail. The REST surface exposes read + delete + a single not-duplicate override. > Auth model: the read and delete endpoints accept a Bearer API key carrying the matching health scope (health:read for reads, health:delete for deletes) or a first-party session cookie. There are no create/update REST endpoints by design — writes go through G2 chat so every change has a conversational audit trail. Send the user's message to POST /api/v1/chat/stream and G2's tools handle log_intervention_event, create_intervention, update_intervention, discontinue_intervention. - `GET /api/v1/interventions` — List. Params: ?kind=medication|supplement|treatment|protocol, ?status=active|paused|completed|discontinued, ?search=, ?limit= (max 200), ?offset=, ?profileId=. - `GET /api/v1/interventions/:id` — One intervention detail. - `GET /api/v1/interventions/:id/events` — Events for one intervention. Params: ?startDate=, ?endDate=, ?limit= (max 500). - `GET /api/v1/interventions/timeline` — Cross-intervention event stream paginated by time. - `GET /api/v1/interventions/adherence?windowDays=7` — Per-intervention adherence summaries over the last N days. - `DELETE /api/v1/interventions/:id` — Delete an intervention (cascade-removes its events). - `DELETE /api/v1/intervention-events/:id` — Delete a single recorded event. - `PATCH /api/v1/intervention-events/:id/not-duplicate` — Clear the duplicate-warning flag on an event the user confirms is distinct. ## Re-analyze vs Refresh - Refresh — re-fetches your existing analysis results from the server. Useful if data was partially imported or to sync the latest parsed records. Speed: instant (seconds). Result: same analysis, re-imported. - Re-analyze — re-submits your original genomic file to the analysis engine for a completely fresh analysis using the latest knowledge base. May significantly increase the number of analyzed indicators. Speed: minutes to hours. Result: new analysis with latest KB. ## Integration Tips - For ChatGPT / Claude: paste the API endpoint and key into your system prompt. The AI can then query genomics, lab results, medical imaging and CGM data for personalized recommendations. - For Custom Agents: use the REST API in your agent's tool/function-calling setup. Start with the Health Profile endpoint for a compact overview, then drill down. The structured JSON is designed for easy parsing by LLM-based agents. - For MCP Servers: build an MCP tool that wraps the Orviva API. Your agent accesses genomic, clinical, and time-series health data as a native tool. - Security: store API keys as environment variables, never in code. Keys expire after 30 days. Each key is bound to one profile, so a compromised key only exposes that profile. Revoke compromised keys immediately. --- © 2025 OmicsIO PTE LTD. Product: https://orviva.ai --- # Lab indicators > What each blood test and checkup marker measures, what high or low means, and what moves the number. Index: https://orviva.ai/learn/indicators (English) · https://orviva.ai/zh/learn/indicators (中文). Each entry below links to its page. ## Alanine Aminotransferase > An enzyme packed inside liver cells. Because healthy cells keep it in, the amount circulating in blood is one of the most sensitive routine signals of liver-cell stress or injury. Source: https://orviva.ai/learn/indicators/alt (curated, human-reviewed) ### What is ALT? Alanine aminotransferase (ALT, historically SGPT) is an enzyme that lives in the cytoplasm of liver cells, with much smaller amounts in kidney, heart and skeletal muscle. It is not secreted on purpose — what shows up in blood has leaked out of cells whose membranes were damaged. That is why ALT is read as a marker of hepatocellular injury rather than of liver function: a badly scarred liver can have a normal ALT, and a mildly fatty liver can have a raised one. ### What is ALT made of, and where does it come from? A protein enzyme of the aminotransferase family. It only works when bound to pyridoxal-5'-phosphate, the active form of vitamin B6 — so severe B6 deficiency can lower measured ALT activity even when liver cells are being damaged. ### What does ALT do in the body? ALT catalyses the transfer of an amino group from alanine to alpha-ketoglutarate, producing pyruvate and glutamate. That single reaction is the hinge between protein and carbohydrate metabolism: during fasting it lets the liver turn amino acids arriving from muscle into glucose. Its diagnostic value, though, comes from where it sits rather than what it does — concentrated inside hepatocytes, it spills into blood in proportion to how many of them are leaking. ### What does a high ALT mean? Raised ALT means liver cells are leaking. It says nothing on its own about why, or about how much liver function remains. Mild elevations (up to about twice the upper limit) are common and most often metabolic; values above roughly ten times the upper limit point to acute injury — viral, drug-induced or ischaemic — and warrant prompt medical assessment rather than lifestyle changes. - Metabolic dysfunction-associated fatty liver — by a wide margin the most common reason for a mildly raised ALT in people without symptoms. - Alcohol intake. Alcohol-related injury more often raises AST above ALT, so the two are read together. - Medications and supplements — paracetamol/acetaminophen, some antibiotics, antifungals, anti-tuberculosis drugs, high-dose niacin, anabolic steroids and a number of herbal products. - Viral hepatitis (B and C especially), and less often autoimmune hepatitis, haemochromatosis, Wilson disease or coeliac disease. - Muscle injury, including a hard unaccustomed workout in the preceding days. Muscle raises AST and creatine kinase more than ALT, which is how the pattern is told apart. ### What does a low ALT mean? A low ALT is usually of no clinical concern and most laboratories do not flag it. Two situations are worth knowing: marked vitamin B6 deficiency reduces measured enzyme activity, and in older adults a persistently low ALT has been associated in cohort studies with reduced muscle mass and frailty — an association, not a diagnosis. - Vitamin B6 deficiency. - Low muscle mass, more often seen with advancing age. ### What moves ALT apart from disease? - **Strenuous or unaccustomed exercise** (raises it): Muscle damage from heavy resistance training or a long run can raise ALT for several days. Leaving 48-72 hours between a hard session and a blood draw avoids a misleading result. - **Body weight and visceral fat** (raises it): ALT tracks liver fat closely. Weight gain of even a few kilograms can move it, and losing 5-10% of body weight often brings it back down. - **Alcohol** (raises it): Both recent drinking and habitual intake matter. Several alcohol-free weeks before retesting makes the result much easier to interpret. - **Sex and age** (either direction): Men run higher than women, which is why some laboratories publish sex-specific upper limits. Values drift down in older age. - **Biological day-to-day variation** (either direction): The same healthy person's ALT can vary by tens of percent between days, and tends to read higher in the afternoon. A single borderline value is worth repeating before drawing conclusions. - **Haemolysis of the sample** (raises it): A difficult blood draw that breaks red cells releases enzyme into the serum and inflates the result. Laboratories usually note this on the report. ### How should you prepare for a ALT test? - Avoid strenuous or unaccustomed exercise for 48-72 hours before the draw. - Fasting is not required for ALT, though it usually is for the other tests ordered alongside it. - A single mildly raised value should be repeated before acting on it — day-to-day variation is substantial. - Tell the laboratory or clinician about all supplements and herbal products; several affect the result. ### References - Kwo PY, Cohen SM, Lim JK. ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries. Am J Gastroenterol 2017 — https://doi.org/10.1038/ajg.2016.517 - Sanyal AJ et al. Pioglitazone, Vitamin E, or Placebo for Nonalcoholic Steatohepatitis (PIVENS). N Engl J Med 2010 — https://doi.org/10.1056/NEJMoa0907929 - Romero-Gómez M, Zelber-Sagi S, Trenell M. Treatment of NAFLD with diet, physical activity and exercise. J Hepatol 2017 — https://doi.org/10.1016/j.jhep.2017.05.016 ## Apolipoprotein B > The protein carried one-per-particle by every LDL, VLDL and IDL particle, so its concentration is a direct count of the particles that cause atherosclerosis. Source: https://orviva.ai/learn/indicators/apob (curated, human-reviewed) ### What is ApoB? Apolipoprotein B (ApoB) is the protein scaffold of every lipoprotein particle that can cause atherosclerosis — VLDL, IDL, LDL and lipoprotein(a). Each of those particles carries exactly one ApoB molecule for its entire life, and the molecule never moves to another particle, so measuring ApoB in blood counts the particles themselves. This is the key difference from LDL cholesterol, which weighs the cholesterol cargo inside the particles: two people with identical LDL-C can differ substantially in ApoB, because their particles carry different amounts of cholesterol each. ### What is ApoB made of, and where does it come from? The liver makes ApoB-100, a single chain of 4,536 amino acids and one of the largest proteins in the body, and wraps it around each VLDL particle it secretes; as VLDL sheds triglyceride it becomes IDL and then LDL, keeping the same ApoB throughout. The intestine makes a shortened version, ApoB-48, for chylomicrons after meals. Standard clinical assays measure both, but more than 90% of circulating ApoB sits on LDL particles, so the result is effectively an LDL particle count. Results are reported in g/L or mg/dL (1 g/L = 100 mg/dL), standardised against a WHO-IFCC reference material. ### What does ApoB do in the body? ApoB does two jobs that together explain why particle number drives heart disease. On the surface of each particle it is the ligand the liver's LDL receptor recognises, so it governs how quickly particles are cleared from blood. It is also the region that binds to proteoglycans in the artery wall, which is what traps a particle after it crosses the endothelium — the 'response to retention' that starts a plaque. Particles enter the wall roughly in proportion to how many are circulating, not to how much cholesterol each carries, which is why ApoB tracks risk more closely than LDL-C when the two disagree. Mendelian randomisation studies summarised by Ference and colleagues in 2017 show that genetic variants change heart disease risk in proportion to their effect on ApoB particle number, whatever they do to cholesterol or triglyceride. ### What does a high ApoB mean? A high ApoB means more atherogenic particles are circulating, and therefore more are entering and being retained in artery walls; the risk it carries accumulates over years in the same way as LDL-C. ApoB matters most when it is high while LDL-C looks acceptable — a pattern common in insulin resistance, type 2 diabetes, high triglycerides and abdominal obesity, where each particle carries less cholesterol so LDL-C understates the count. Sniderman and colleagues' 2019 review found that in such discordant cases ApoB predicts events better than LDL-C or non-HDL-C. The 2019 ESC/EAS dyslipidaemia guideline accepts ApoB as an alternative primary measurement for this reason and sets risk-based goals rather than a single universal cut-off; what counts as high therefore depends on overall cardiovascular risk, decided with a clinician. - Insulin resistance, metabolic syndrome and type 2 diabetes, in which the liver overproduces VLDL and the resulting LDL particles are small, numerous and cholesterol-poor — high ApoB with unremarkable LDL-C. - A diet high in saturated and trans fats, which reduces LDL receptor activity and slows particle clearance. - Familial hypercholesterolaemia and related inherited defects in the LDL receptor, ApoB itself, or PCSK9 — suspected when ApoB is very high from a young age or heart disease runs early in the family. - Untreated hypothyroidism, nephrotic syndrome, cholestatic liver disease, and medications such as corticosteroids, some antiretrovirals and certain immunosuppressants. - Weight gain and heavy alcohol intake, both of which raise VLDL output. ### What does a low ApoB mean? A low ApoB is almost always good news and rarely needs explaining: it means few atherogenic particles, and no floor has been found below which lower ApoB stops reducing risk. People born with low ApoB because of loss-of-function variants in PCSK9 or truncating variants in the APOB gene have markedly less coronary disease over a lifetime. The exceptions are uncommon: very low values that were not produced by treatment can accompany hyperthyroidism, malabsorption, malnutrition, advanced liver disease or an acute illness, and the rare inherited condition familial hypobetalipoproteinaemia can cause fatty liver despite its cardiovascular advantage. - Lipid-lowering treatment — statins, ezetimibe or PCSK9 inhibitors — working as intended. - Inherited low ApoB, which is favourable and needs no action in itself. - Hyperthyroidism, malabsorption, malnutrition or advanced liver disease. - Acute illness, major surgery or the weeks after a heart attack, when all lipoproteins fall temporarily. ### What moves ApoB apart from disease? - **Fasting — not required** (either direction): ApoB is one of the most meal-stable lipid measures: the intestinal ApoB-48 that rises after eating is a tiny fraction of total ApoB, so a non-fasting value differs from a fasting one by only a few percent. The 2016 EAS/EFLM consensus statement concluded that fasting is not routinely needed for lipid profiles, and ApoB is the component least affected by that choice. - **Recent acute illness, infection, surgery or heart attack** (lowers it): Inflammation suppresses lipoprotein production, so ApoB falls during an acute illness and for several weeks afterwards and can read deceptively low. A value drawn in that window does not represent the usual level. - **Pregnancy** (raises it): All lipoproteins rise physiologically through pregnancy, with ApoB typically up by a third or more by the third trimester and returning to baseline over the months after delivery. Results from this period are not comparable with pre-pregnancy values. - **Oestrogen and other hormones** (either direction): Oral oestrogen — in combined contraceptives and menopausal hormone therapy — modestly lowers ApoB and LDL-C while raising triglycerides; transdermal oestrogen has much less effect. ApoB rises after the menopause as oestrogen falls, and it rises with androgen and anabolic steroid use. - **Thyroid status** (either direction): An underactive thyroid slows LDL receptor activity and raises ApoB; an overactive one lowers it. Thyroid function is usually checked before a newly raised ApoB is treated as a lipid problem. - **Units and assay standardisation** (either direction): ApoB is reported in g/L in most of the world and mg/dL in the United States, a hundredfold difference in the printed number. Between-laboratory agreement has improved with WHO-IFCC standardisation but is not perfect, so results from different laboratories are best compared with that caveat in mind. ### How should you prepare for a ApoB test? - Fasting is not needed; ApoB is the lipid measure least affected by a recent meal. - ApoB is not on every standard lipid panel and often has to be requested separately; it is most informative when triglycerides are high, in diabetes or obesity, or when LDL-C is borderline. - Check the units — g/L and mg/dL differ a hundredfold — and compare results from the same laboratory over time. - Values drawn during or in the weeks after an acute illness, surgery or heart attack read low and do not represent the usual level. - Reading ApoB next to LDL-C on the same sample is the point of measuring it: agreement is reassuring, disagreement is the finding. ### References - Sniderman AD et al. Apolipoprotein B particles and cardiovascular disease: a narrative review. JAMA Cardiol 2019 — https://doi.org/10.1001/jamacardio.2019.3780 - Mach F et al. 2019 ESC/EAS Guidelines for the management of dyslipidaemias. Eur Heart J 2020 — https://doi.org/10.1093/eurheartj/ehz455 - Ference BA et al. Low-density lipoproteins cause atherosclerotic cardiovascular disease — EAS Consensus Panel. Eur Heart J 2017 — https://doi.org/10.1093/eurheartj/ehx144 - Marston NA et al. Association of apolipoprotein B-containing lipoproteins and risk of myocardial infarction in individuals with and without atherosclerosis. JAMA Cardiol 2022 — https://doi.org/10.1001/jamacardio.2021.5083 - Nordestgaard BG et al. Fasting is not routinely required for determination of a lipid profile — EAS/EFLM joint consensus statement. Eur Heart J 2016 — https://doi.org/10.1093/eurheartj/ehw152 ## Aspartate Aminotransferase > An enzyme found in liver, heart, skeletal muscle and red cells. A raised level means cells somewhere in that list are leaking; ALT and CK show which. Source: https://orviva.ai/learn/indicators/ast (curated, human-reviewed) ### What is AST? Aspartate aminotransferase (AST, historically SGOT) is an enzyme present in many tissues, not only the liver: heart muscle, skeletal muscle, kidney, brain and red blood cells all contain substantial amounts. Healthy cells keep it inside, so what circulates in blood has escaped from cells whose membranes were damaged. That breadth of origin is the whole story of how AST is read — a raised value confirms that cells are injured somewhere, and the tests drawn alongside it (ALT for liver, creatine kinase for muscle) say where. ### What is AST made of, and where does it come from? A protein enzyme of the aminotransferase family that exists as two isoenzymes: a cytoplasmic form and a mitochondrial form. In liver cells roughly four fifths of the AST is mitochondrial, which matters because mild injury releases mainly the cytoplasmic form while alcohol and severe cell death release the mitochondrial one. Like ALT, it needs pyridoxal-5'-phosphate (active vitamin B6) as a cofactor, so severe B6 deficiency lowers the measured activity. ### What does AST do in the body? AST moves an amino group from aspartate to alpha-ketoglutarate, producing oxaloacetate and glutamate. That reaction links amino-acid metabolism to the citric acid cycle and is one arm of the malate-aspartate shuttle, which is how muscle and heart move reducing power into mitochondria to make energy — the reason these tissues carry so much of it. Its diagnostic use has nothing to do with this job: AST is simply a marker that spills into blood in proportion to how many AST-rich cells are breaking. It clears from blood with a half-life of roughly 17 hours, about a third of ALT's, so after a one-off injury AST falls back faster than ALT does. ### What does a high AST mean? A raised AST means cells rich in the enzyme are being damaged, and the pattern of the tests around it identifies which tissue. AST above ALT with a raised GGT points towards alcohol; ALT above AST fits fatty liver or viral hepatitis; AST raised with creatine kinase and a normal ALT points to muscle. The ACG 2017 guideline on abnormal liver chemistries grades elevations by multiples of the laboratory's upper limit — borderline below twice, mild two to five times, moderate five to fifteen times, severe beyond that — and values in the moderate range or above call for prompt medical assessment rather than a wait-and-repeat approach. - Fatty liver and the metabolic syndrome — the most common reason overall, though here ALT usually leads and AST follows. - Alcohol. It damages mitochondria, releasing the mitochondrial AST isoenzyme, and depletes vitamin B6, which blunts ALT more than AST — together this produces the classic AST-dominant pattern. - Muscle injury of any kind: hard or unaccustomed exercise, a fall, an intramuscular injection, seizures, muscle disease, or statin-related muscle damage. Creatine kinase rises alongside and ALT stays comparatively low. - Heart muscle injury. AST was the original 'cardiac enzyme' in the 1950s; troponin has replaced it for that purpose, but a heart attack or myocarditis still raises AST. - Acute liver injury from viruses, medicines, herbal products or a temporary loss of blood supply. These produce the largest rises, typically together with ALT. - Haemolysis — either in the body or in the sample tube. Red cells contain far more AST than ALT, so a haemolysed sample inflates AST specifically. - Macro-AST: the enzyme bound to an antibody into a complex too large to clear. It causes a persistent, isolated, entirely harmless AST elevation and is identified with a specific laboratory test. ### What does a low AST mean? A low AST is almost never a clinical problem and laboratories rarely flag it. The exceptions are worth knowing rather than worrying about: severe vitamin B6 deficiency lowers measured activity, people on long-term dialysis tend to run low, and in older adults a persistently low AST has been linked in cohort studies to low muscle mass — an association that describes groups, not a finding to act on individually. - Vitamin B6 deficiency. - Long-term haemodialysis. - Low muscle mass in older age. ### What moves AST apart from disease? - **Strenuous exercise and muscle injury** (raises it): Muscle is the single biggest non-liver source of a raised AST. In healthy volunteers, one hour of unaccustomed weightlifting raised AST for a week, with the peak two to four days after the session. Any AST measured within a few days of hard training, a marathon, a fall or an intramuscular injection is at risk of being misread as liver disease. - **Haemolysis of the sample** (raises it): Red cells hold a large reservoir of AST, so a difficult draw, a tube shaken hard, or a sample left too long before separation raises AST while ALT stays about the same. Laboratories usually mark haemolysed samples on the report; an unexplained isolated AST rise is a reason to check for that note. - **Alcohol in the preceding days and weeks** (raises it): Alcohol raises AST more than ALT, which is why an AST/ALT ratio above 2 is read as an alcohol signal. Even a single heavy evening can shift the ratio, and habitual intake keeps it shifted. Several alcohol-free weeks before a repeat test remove this variable. - **Sex, age and body composition** (either direction): Men run somewhat higher than women, partly because of greater muscle mass. Values rise slightly with body weight and visceral fat, and drift downward in old age as muscle mass falls. Newborns and young children run higher than adults. - **Vitamin B6 status** (lowers it): AST needs vitamin B6 to work, so a marked deficiency lowers the measured activity even when cells are leaking. Some laboratory methods add B6 to the reaction to remove this effect; others do not, which is one reason results differ between laboratories. - **Medicines and supplements** (raises it): Statins, some antibiotics, anti-tuberculosis drugs, antifungals, valproate, high-dose niacin, anabolic steroids and many herbal products can raise AST — either by injuring liver cells or, for statins, occasionally muscle. A full list of everything taken, including over-the-counter and herbal items, is essential context for any raised value. ### How should you prepare for a AST test? - Avoid hard or unaccustomed exercise for at least 72 hours before the draw — after an unusually heavy session, AST can stay raised for about a week. - Fasting is not required for AST itself, although it usually is for tests ordered on the same panel. - Check the report for a haemolysis note whenever AST is raised and ALT is not; a repeat sample often resolves it. - A persistently raised AST with a normal ALT, GGT and creatine kinase is the situation in which laboratories test for macro-AST — a harmless cause worth ruling out before any further investigation. - Report recent alcohol intake, intramuscular injections, falls and all medicines and supplements; each changes how the result is read. ### References - Kwo PY, Cohen SM, Lim JK. ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries. Am J Gastroenterol 2017 — https://doi.org/10.1038/ajg.2016.517 - Giannini EG, Testa R, Savarino V. Liver enzyme alteration: a guide for clinicians. CMAJ 2005 — https://doi.org/10.1503/cmaj.1040752 - Pettersson J et al. Muscular exercise can cause highly pathological liver function tests in healthy men. Br J Clin Pharmacol 2008 — https://doi.org/10.1111/j.1365-2125.2007.03001.x - Nathwani RA, Pais S, Reynolds TB, Kaplowitz N. Serum alanine aminotransferase in skeletal muscle diseases. Hepatology 2005 — https://doi.org/10.1002/hep.20548 ## Body Mass Index > Body Mass Index (BMI) is a common metric used to assess whether a person's weight is healthy relative to their height. Source: https://orviva.ai/learn/indicators/bmi (AI-compiled, not individually reviewed) ### What is BMI? Body Mass Index (BMI) is a numerical value derived from an individual's weight and height. It is calculated by dividing a person's weight in kilograms by the square of their height in meters. BMI is widely used as a screening tool to categorize individuals into weight status groups such as underweight, normal weight, overweight, and obesity. ### How is BMI calculated? ``` Weight (kg) / [Height (m)]² ``` Weight is measured in kilograms and height in meters. ### What does BMI do in the body? BMI is primarily used as an indicator of body fatness for most people and can predict health risks associated with different weight categories. However, it does not directly measure body fat or distinguish between fat and muscle mass. For example, athletes with high muscle mass might have a high BMI without having excessive body fat. ### What does a high BMI mean? A high BMI typically suggests that a person has excess body weight for their height, often indicating overweight or obesity. This is associated with an increased risk of various health conditions, including heart disease, type 2 diabetes, high blood pressure, certain cancers, and sleep apnea. - Excessive caloric intake - Lack of physical activity - Genetic predisposition - Certain medical conditions (e.g., hypothyroidism, Cushing's syndrome) - Medication side effects ### What does a low BMI mean? A low BMI suggests that a person's weight is lower than what is generally considered healthy for their height, indicating underweight. Being underweight can also be associated with health risks such as nutritional deficiencies, weakened immune function, osteoporosis, and fertility issues. - Insufficient caloric intake or malnutrition - High metabolism - Intense physical activity without adequate caloric intake - Eating disorders (e.g., anorexia nervosa) - Chronic diseases (e.g., hyperthyroidism, inflammatory bowel disease, cancer) ### What moves BMI apart from disease? - **Muscle Mass** (raises it): Individuals with high muscle mass (e.g., bodybuilders) may have a high BMI without excess body fat. - **Age** (either direction): BMI interpretations can vary by age, especially for children and older adults. Muscle mass tends to decrease with age, affecting BMI interpretation. - **Sex** (either direction): Men and women naturally have different body compositions, affecting how BMI correlates with body fat percentage. - **Ethnicity** (either direction): Different ethnic groups may have different associations between BMI, body fat percentage, and health risks, necessitating specific guidelines for some populations. ### How should you prepare for a BMI test? - Ensure accurate and consistent measurement of height and weight, preferably using calibrated equipment. - Measure weight at the same time of day (e.g., in the morning before breakfast) and in similar clothing to minimize variability. ### References - World Health Organization. Body mass index – BMI. 2023. — https://www.who.int/news-room/fact-sheets/detail/obesity-and-overweight - Centers for Disease Control and Prevention. About Adult BMI. 2023. — https://www.cdc.gov/healthyweight/assessing/bmi/adult_bmi/index.html - Nuttall FQ. Body Mass Index (BMI): A Critical Review. Nutr Today. 2015 May;50(3):117-135. — https://doi.org/10.1097/NT.0000000000000092 ## Creatinine > A waste product of muscle metabolism cleared almost entirely by the kidneys. Blood levels rise as filtration falls, but muscle mass sets the baseline. Source: https://orviva.ai/learn/indicators/cr (curated, human-reviewed) ### What is creatinine? Creatinine is the breakdown product of creatine, the molecule muscle uses to store quick-release energy. A small, roughly constant fraction of the body's creatine pool turns into creatinine every day, so production depends on how much muscle a person carries rather than on what they did that day. The kidneys filter it freely and reclaim almost none of it, which makes the blood level a convenient shorthand for filtering capacity: when filtration slows, creatinine accumulates. Serum creatinine is not a measure of kidney function in itself — it is the raw input from which estimated GFR (eGFR) is calculated. ### What is creatinine made of, and where does it come from? Creatinine is a small nitrogen-containing molecule (113 daltons) formed when creatine and creatine phosphate spontaneously lose water — no enzyme is involved, which is why the rate is so steady. Laboratories measure it by one of two methods: the older Jaffe reaction with alkaline picrate, which is cheap but reacts with glucose, ketones, bilirubin and some antibiotics, or an enzymatic method that is less prone to interference. Both are standardised against a reference method (IDMS), so results from different laboratories are comparable, though the units differ by region — mg/dL in some countries, µmol/L in others (1 mg/dL = 88.4 µmol/L). ### What does creatinine do in the body? Creatinine has no function in the body; it is a by-product on its way out. Its diagnostic value rests on two facts: production is steady from day to day, and clearance depends almost entirely on how much blood the kidneys filter. A small share (around 10-20%) is actively secreted by the kidney tubules rather than filtered, which becomes relevant when drugs block that secretion. The relationship between creatinine and filtration is inverse and strongly curved — filtration can fall by roughly half before creatinine leaves the laboratory's reference interval, and thereafter small further losses produce large rises. This 'creatinine-blind' range is the main reason eGFR, not raw creatinine, is used to grade kidney function. ### What does a high creatinine mean? A raised creatinine most often means the kidneys are filtering less than expected for a person of that size — either from a long-standing reduction in kidney function or from a short-term drop such as dehydration, a urinary blockage or a medication effect. Before that conclusion is drawn, the non-kidney explanations below have to be excluded, because heavy muscle, creatine supplements, a recent meat-rich meal and a handful of common drugs all raise creatinine without any change in filtration. KDIGO 2024 defines chronic kidney disease by an eGFR below 60 mL/min/1.73 m² or other markers of kidney damage persisting for more than three months, so a single high creatinine on its own establishes nothing. - Reduced kidney filtration — chronic kidney disease from diabetes, high blood pressure or glomerular disease, or an acute kidney injury. - Dehydration or reduced blood flow to the kidneys, which raises both creatinine and urea and usually reverses with fluids. - High muscle mass — athletes, heavy resistance trainers and large-framed men run higher because they make more creatinine, not because they filter less. - Creatine supplements and a large portion of cooked meat, both of which add creatinine directly. - Medications that block tubular secretion without harming the kidney — trimethoprim, cimetidine, fenofibrate and some HIV drugs (dolutegravir, cobicistat) — plus non-steroidal anti-inflammatory drugs and some blood-pressure drugs that genuinely reduce filtration temporarily. ### What does a low creatinine mean? A low creatinine nearly always reflects low muscle mass rather than 'excellent' kidney function. Older adults, people who are underweight or bed-bound, and those with muscle-wasting conditions simply produce less of it. Pregnancy also lowers creatinine because blood volume expands and the kidneys filter more. The practical consequence of a low creatinine is that any eGFR calculated from it will overestimate kidney function, which is why cystatin C is recommended as a cross-check in people with unusually little muscle. - Low muscle mass — advancing age, sarcopenia, malnutrition, amputation, muscular dystrophy or prolonged immobility. - Pregnancy, in which filtration rises by up to 50% and plasma volume expands. - Advanced liver disease, which reduces the liver's synthesis of creatine, the precursor. - Very low meat intake or a long-standing vegan diet, which removes the dietary contribution. ### What moves creatinine apart from disease? - **Muscle mass — the dominant non-kidney factor** (either direction): Creatinine production is proportional to muscle, so a muscular 25-year-old man and a frail 80-year-old woman can have the same filtration rate and creatinine values that differ by half. Every eGFR equation tries to correct for this using age and sex, but it can only assume average muscle for that age and sex. - **Creatine supplements** (raises it): Creatine monohydrate, widely used in strength sports, is converted to creatinine at a steady rate and raises the blood level for as long as it is taken, with no effect on true filtration. Studies in healthy adults have not shown kidney harm, but the raised creatinine will make a calculated eGFR look worse than the kidneys really are. - **A cooked-meat meal in the preceding hours** (raises it): Cooking converts the creatine in meat into creatinine, which is absorbed directly. A large steak or a stewed-meat dish can raise serum creatinine by a noticeable margin for several hours — enough to move a borderline eGFR across a threshold. - **Hydration and blood volume** (either direction): Dehydration reduces the blood flow reaching the kidneys and raises creatinine, typically together with a larger rise in urea. Over-hydration in the hours before a draw has a much smaller effect in the opposite direction. Neither reflects any change in the kidneys themselves. - **Drugs that block tubular secretion** (raises it): Trimethoprim (in co-trimoxazole), cimetidine, fenofibrate, dolutegravir and cobicistat compete with creatinine for the same tubular transporter. Each can push creatinine up by 10-30% within days of starting, with filtration unchanged; the level returns to baseline when the drug stops. Cystatin C is unaffected and settles the question. - **Assay interference** (either direction): The Jaffe method reads falsely high with ketones (fasting, ketogenic diets, uncontrolled diabetes) and some cephalosporins, and falsely low with high bilirubin. Enzymatic assays avoid most of this; a report from a different laboratory using a different method can differ for that reason alone. ### How should you prepare for a creatinine test? - Avoid a large meat meal for about 12 hours before the draw; overnight fasting takes care of this and is often requested anyway for the tests ordered alongside. - Skip strenuous or unaccustomed exercise for 24-48 hours beforehand, and drink normally — neither dehydrated nor deliberately over-hydrated. - Mention creatine supplements and every medication, especially trimethoprim, cimetidine, fenofibrate, NSAIDs and HIV drugs, since several raise creatinine without affecting the kidneys. - Look at the eGFR the laboratory reports alongside creatinine, not creatinine alone, and check the units (mg/dL versus µmol/L) before comparing results from different laboratories. - Where muscle mass is unusual — very athletic, very frail, an amputation, a muscle disease — a cystatin C test gives a filtration estimate that does not depend on muscle. ### References - Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group. KDIGO 2024 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease. Kidney Int 2024 — https://doi.org/10.1016/j.kint.2023.10.018 - Inker LA et al. New Creatinine- and Cystatin C-Based Equations to Estimate GFR without Race. N Engl J Med 2021 — https://doi.org/10.1056/NEJMoa2102953 - Delanaye P, Cavalier E, Pottel H. Serum Creatinine: Not So Simple! Nephron 2017 — https://doi.org/10.1159/000469669 - Levey AS, Inker LA. Assessment of Glomerular Filtration Rate in Health and Disease: A State of the Art Review. Clin Pharmacol Ther 2017 — https://doi.org/10.1002/cpt.729 ## Estimated GFR > An estimate of the kidneys' filtering rate, calculated from creatinine, age and sex. Kidney disease is staged by it, but it is not a direct measurement. Source: https://orviva.ai/learn/indicators/egfr (curated, human-reviewed) ### What is eGFR? Estimated glomerular filtration rate (eGFR) is a calculated number, not something measured in the blood. Glomerular filtration rate itself — the volume of blood plasma the kidneys' filtering units clear each minute, expressed per 1.73 m² of body surface — can only be measured directly by infusing a tracer and timing its disappearance, which is impractical for routine care. eGFR approximates it by taking serum creatinine and adjusting for the two things that most change how much creatinine a person produces: age and sex. Laboratories report it automatically with every creatinine result, and it is the value on which chronic kidney disease is defined and staged. ### How is eGFR calculated? ``` eGFR = 142 × min(Scr/κ, 1)^α × max(Scr/κ, 1)^−1.200 × 0.9938^Age × 1.012 [if female]; Scr in mg/dL; κ = 0.7 (female) / 0.9 (male); α = −0.241 (female) / −0.302 (male) ``` This is the CKD-EPI 2021 creatinine equation, recommended by KDIGO 2024 and adopted by most laboratories. It is an estimate: for any individual the true GFR lies within about ±30% of the reported value nine times out of ten, and precision is poorest above 60. Companion equations exist that use cystatin C instead of creatinine, or both together; the combined creatinine-cystatin C version is the most accurate and is recommended whenever the creatinine result may be distorted by muscle mass or medication. Earlier equations (MDRD, CKD-EPI 2009) multiplied the result by a factor for people identified as Black; the 2021 equation removed that coefficient because race is a social rather than biological category, the adjustment could not be applied consistently, and it delayed diagnosis and transplant listing for Black patients. Some laboratories still report the 2009 version, so the equation used should be checked when comparing results. ### What does eGFR do in the body? eGFR reflects how much filtering work the kidneys are doing, which is the single most useful summary of kidney function. Each kidney contains about a million glomeruli, tiny capillary tufts that push water and small molecules out of the blood into the tubules while retaining cells and proteins. A young adult filters roughly 90-120 mL of plasma per minute per 1.73 m² — about 180 litres a day, nearly all of it reabsorbed. Filtration declines slowly with age even in health, by around 1 mL/min/1.73 m² a year after the fourth decade, and faster with diabetes, high blood pressure or glomerular disease. Because a kidney with fewer working glomeruli compensates by making the remaining ones work harder, eGFR can stay stable for years before a decline becomes visible — which is why it is read together with urine albumin. ### What does a high eGFR mean? A high eGFR is usually of no concern and most laboratories simply report it as above 90 or above 60 without a number. Two situations give it some meaning. First, a falsely high estimate: anything that lowers creatinine for non-kidney reasons — little muscle, pregnancy, liver disease, a vegan diet — makes the equation overstate filtration, and cystatin C gives the correction. Second, genuine hyperfiltration: in early diabetes, obesity and pregnancy the kidneys filter more than normal, and in diabetes this phase has been associated in cohort studies with faster later decline. Above about 60 the equation is too imprecise for small differences to carry any message. - Low muscle mass, which lowers creatinine and inflates the estimate — the most common explanation in older or underweight people. - Pregnancy, in which true filtration rises by up to 50%. - Early diabetes or obesity, in which the kidneys hyperfilter before any damage shows. - A high-protein diet, which raises filtration modestly over the following hours. ### What does a low eGFR mean? A low eGFR means the kidneys are estimated to be filtering less than expected for the person's age and sex. KDIGO 2024 defines chronic kidney disease as an eGFR below 60 mL/min/1.73 m², or other evidence of kidney damage such as albumin in the urine, persisting for more than three months, and grades it in categories from G1 (90 or above) through G3a (45-59), G3b (30-44) and G4 (15-29) to G5 (below 15). A single low value is not a diagnosis: it has to be confirmed over time, and the confounders that raise creatinine without touching the kidneys — muscle, creatine, a meat meal, certain drugs — have to be excluded, ideally with a cystatin C-based estimate. - Chronic kidney disease, most often from diabetes or high blood pressure, less often from glomerulonephritis, polycystic kidney disease or long-term urinary obstruction. - Acute kidney injury — dehydration, severe infection, a urinary blockage, or a drug such as an NSAID or contrast agent — which typically recovers. - High muscle mass, creatine supplements or a recent cooked-meat meal, none of which affect the kidneys but all of which raise creatinine and pull the estimate down. - Medications that block creatinine secretion — trimethoprim, cimetidine, fenofibrate, dolutegravir, cobicistat — producing an apparent fall of 10-30% with no true change. - Normal ageing: a healthy 80-year-old commonly has an eGFR in the 60s, which the equation partly but not fully allows for. ### What moves eGFR apart from disease? - **Muscle mass relative to age and sex** (either direction): The equation assumes average muscle for a person's age and sex, because that is what its creatinine term stands in for. Anyone far from that average — a bodybuilder, a marathon runner, a frail older adult, an amputee, a person with a muscle disease — gets a systematically wrong estimate in a predictable direction: more muscle, lower eGFR; less muscle, higher eGFR. - **The age and sex inputs themselves** (either direction): eGFR falls by design as age increases even when creatinine is unchanged, because the equation expects older people to make less creatinine. The same creatinine value therefore yields a lower eGFR for a woman than a man, and for a 70-year-old than a 30-year-old. A mis-entered birth date or sex changes the result outright. - **Creatine supplements** (lowers it): Creatine monohydrate raises serum creatinine for as long as it is taken and so lowers the calculated eGFR, without any change in true filtration. A cystatin C-based estimate is unaffected and is the straightforward way to resolve the discrepancy. - **A cooked-meat meal before the draw** (lowers it): Cooked meat delivers pre-formed creatinine that is absorbed within hours and can push a borderline eGFR across a staging boundary. Overnight fasting removes the effect. - **Hydration** (either direction): Dehydration reduces kidney blood flow, raises creatinine and lowers eGFR temporarily; this is a real but reversible change rather than kidney damage. Urea usually rises out of proportion at the same time, which is the clue. - **Drugs that block tubular creatinine secretion** (lowers it): Trimethoprim, cimetidine, fenofibrate, dolutegravir and cobicistat each raise creatinine by competing for the same transporter, lowering eGFR by 10-30% within days of starting and restoring it when stopped. NSAIDs, ACE inhibitors, ARBs and SGLT2 inhibitors are different: they lower true filtration slightly, and for the latter three that small initial dip is expected and protective in the long run. ### How should you prepare for a eGFR test? - Fast overnight, or at least avoid a large meat meal for 12 hours, so that dietary creatinine does not pull the estimate down. - Skip strenuous or unaccustomed exercise for 24-48 hours beforehand and drink normally — dehydration lowers eGFR temporarily. - Mention creatine supplements and all medications, especially trimethoprim, cimetidine, fenofibrate and HIV drugs, which lower eGFR without affecting the kidneys. - A single eGFR below 60 needs confirming: KDIGO 2024 requires the finding to persist for more than three months before chronic kidney disease is diagnosed, and recommends a cystatin C-based estimate when the value is 45-59 with no other sign of kidney damage. - Check which equation the laboratory uses. Results from the 2009 and 2021 CKD-EPI equations differ by a few units, and the 2009 version applied a race coefficient that the 2021 version does not. - Where muscle mass is far from average — very athletic, very frail, an amputation, a muscle disease — a cystatin C estimate is the more trustworthy number. ### References - Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group. KDIGO 2024 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease. Kidney Int 2024 — https://doi.org/10.1016/j.kint.2023.10.018 - Inker LA et al. New Creatinine- and Cystatin C-Based Equations to Estimate GFR without Race. N Engl J Med 2021 — https://doi.org/10.1056/NEJMoa2102953 - Delgado C et al. A Unifying Approach for GFR Estimation: Recommendations of the NKF-ASN Task Force on Reassessing the Inclusion of Race in Diagnosing Kidney Disease. Am J Kidney Dis 2022 — https://doi.org/10.1053/j.ajkd.2021.08.003 - Levey AS et al. A New Equation to Estimate Glomerular Filtration Rate (CKD-EPI 2009). Ann Intern Med 2009 — https://doi.org/10.7326/0003-4819-150-9-200905050-00006 - Levey AS, Inker LA. Assessment of Glomerular Filtration Rate in Health and Disease: A State of the Art Review. Clin Pharmacol Ther 2017 — https://doi.org/10.1002/cpt.729 ## Fasting Plasma Glucose > Blood glucose after at least eight hours without food. It shows how well the liver and insulin hold glucose steady when no food is coming in. Source: https://orviva.ai/learn/indicators/fpg (curated, human-reviewed) ### What is fasting glucose? Fasting plasma glucose (FPG) is the concentration of glucose in the liquid part of blood after an overnight fast — no calories for at least eight hours, water allowed. In that state no glucose is arriving from the gut, so the number reflects one balance only: how much glucose the liver is releasing against how well basal insulin restrains it. That makes FPG a window on the liver-insulin axis specifically, which is different from what a post-meal test measures (how the body clears a glucose load) and from what HbA1c measures (the average over three months). The three tests disagree with each other more often than people expect, and each disagreement carries information. ### What is fasting glucose made of, and where does it come from? Glucose is a single six-carbon sugar, the body's universal fuel, measured here in venous plasma by an enzymatic method such as hexokinase. Results are reported in mmol/L or mg/dL — the same measurement on two scales, with 1 mmol/L equal to 18 mg/dL. Plasma glucose runs about 11% higher than whole-blood glucose, and modern fingerstick meters are calibrated to report plasma-equivalent values; even so, a laboratory venous result and a home meter reading of the same moment usually differ by a few percent. ### What does fasting glucose do in the body? Overnight, the liver keeps blood glucose steady by breaking down stored glycogen and by making new glucose from lactate, amino acids and glycerol. Insulin is the brake on that output; glucagon, cortisol, adrenaline and growth hormone are the accelerators. The brain depends on this supply — it uses roughly 120 grams of glucose a day and cannot burn fat directly — so the system is built to defend against low glucose far more vigorously than against high. Fasting glucose drifts upward when the liver stops responding to insulin's brake (hepatic insulin resistance) or when the pancreas can no longer produce enough basal insulin; a mild early-morning rise, the 'dawn phenomenon', is the normal result of the cortisol and growth hormone surge before waking. ### What does a high fasting glucose mean? A raised fasting glucose means the liver is releasing more glucose overnight than basal insulin can restrain — the earliest laboratory sign of hepatic insulin resistance and, later, of declining insulin production. The ADA 2024 Standards of Care use a fasting plasma glucose of 100-125 mg/dL (5.6-6.9 mmol/L) to define impaired fasting glucose, a prediabetes category, and 126 mg/dL (7.0 mmol/L) or above, confirmed by a second abnormal result, as one diagnostic criterion for diabetes. A single value never settles it: acute illness, a short fast, a bad night's sleep or a steroid course can all push one morning's result over a line. - Insulin resistance driven by visceral fat and liver fat — by far the most common reason, and one that usually shows up in triglycerides, waist circumference and liver enzymes at the same time. - Prediabetes and type 2 diabetes, in which the pancreas can no longer compensate for that resistance. - A fast that was too short, or calories taken without noticing — milky coffee, a sweetened drink, chewing gum, a late snack the night before. - Acute stress on the body: infection, injury, surgery, pain, or a night of very poor sleep. Stress hormones raise glucose output, and this 'stress hyperglycaemia' settles when the stress does. - Medicines — glucocorticoids most of all, and also thiazide diuretics, some antipsychotics, high-dose niacin, certain HIV and transplant drugs. - Less commonly, conditions that raise counter-regulatory hormones (Cushing syndrome, an overactive thyroid, acromegaly) or damage the pancreas (chronic pancreatitis, haemochromatosis), and type 1 or other specific forms of diabetes. ### What does a low fasting glucose mean? A low fasting glucose has two very different meanings depending on whether glucose-lowering medication is involved. In someone taking insulin or a sulfonylurea, it is hypoglycaemia and it matters: the ADA 2024 Standards of Care classify glucose below 70 mg/dL (3.9 mmol/L) as level 1 and below 54 mg/dL (3.0 mmol/L) as level 2, clinically significant, hypoglycaemia. In someone taking no such medication, a fasting value at the low end of the range is common — especially in lean people, young women and after a long fast — and is not a disorder unless it comes with symptoms that resolve on eating. True fasting hypoglycaemia without medication is rare and always investigated, because the causes (insulin-producing tumours, adrenal or pituitary failure, severe liver disease, heavy alcohol) are serious. - Insulin or sulfonylurea treatment — the cause behind the great majority of clinically significant lows. - A sample left standing before analysis: red cells keep consuming glucose in the tube, lowering the result with every hour of delay. - Heavy alcohol intake without food, which blocks the liver's ability to make new glucose. - A very long fast, prolonged intense exercise the day before, or a small body with low glycogen stores. - Rarely, insulinoma, adrenal insufficiency, pituitary failure, severe liver or kidney disease, or a large tumour. ### What moves fasting glucose apart from disease? - **Length of the fast** (either direction): Glucose keeps falling for the first hours after a meal and levels off after about eight hours, which is where the standard fasting requirement comes from. A fast of six hours reads higher than one of ten; a fast stretched past sixteen hours can read slightly lower. Fasting durations should be similar between tests that are going to be compared. - **Delay between the draw and the analysis** (lowers it): Red cells in the tube go on consuming glucose at roughly 5-7% per hour at room temperature, faster when it is warm. Tubes with a glycolysis inhibitor (sodium fluoride, ideally with citrate) slow but do not stop this in the first hour, so a sample that waited an afternoon can read meaningfully lower than the true value. This is the classic reason a laboratory value comes back lower than a meter reading taken at the same time. - **Sleep the night before** (raises it): One short or badly broken night raises next-morning fasting glucose in healthy people, and restricting sleep to four hours for six nights impaired glucose handling in young men to a degree usually seen with ageing. Shift work and jet lag act the same way. A fasting value drawn after an unusually poor night is worth repeating on a rested one. - **Acute stress, illness and pain** (raises it): Adrenaline and cortisol release glucose from the liver and block insulin's action, so an infection, an injury, a painful procedure or intense anxiety about the test itself can lift the result for a day or two. Fasting glucose measured during a fever describes the fever, not the person's usual metabolism. - **Exercise in the preceding day** (either direction): A session of moderate exercise improves insulin sensitivity for roughly 24-48 hours and usually lowers the next morning's fasting glucose. A very hard or very long session can do the opposite for a day, as stress hormones and muscle glycogen repletion raise the liver's output. Keeping the day before a test typical of normal routine gives the most representative number. - **Medicines and caffeine** (raises it): Glucocorticoids raise fasting glucose within days of starting; thiazides, beta-blockers, some antipsychotics, statins (slightly) and high-dose niacin do so more modestly. Caffeine taken shortly before the draw acutely reduces insulin sensitivity, which is why 'water only' is the safer instruction than 'black coffee is fine'. ### How should you prepare for a fasting glucose test? - Fast for 8-12 hours before the draw: no food, no sweetened or milky drinks, no chewing gum. Plain water is fine and helps the draw. - Have the sample drawn in the morning; a fasting value taken in the afternoon after skipping lunch is not the same measurement. - Keep the day and night before ordinary — normal meals, normal activity, a normal night's sleep — so the result describes usual metabolism rather than an unusual day. - Postpone the test during a fever, infection or the week after surgery, and mention any steroid course; these push glucose up temporarily. - Ask that the sample go into a glycolysis-inhibitor tube and be processed promptly — a value that looks unexpectedly low may simply have waited too long. - Any result near a decision line needs confirming on a different day; the ADA 2024 Standards of Care require two abnormal results before a diagnosis of diabetes is made. ### References - American Diabetes Association. Diagnosis and Classification of Diabetes — Standards of Care in Diabetes 2024. Diabetes Care 2024 — https://doi.org/10.2337/dc24-S002 - Knowler WC et al. Reduction in the Incidence of Type 2 Diabetes with Lifestyle Intervention or Metformin (Diabetes Prevention Program). N Engl J Med 2002 — https://doi.org/10.1056/NEJMoa012512 - Sacks DB et al. Guidelines and Recommendations for Laboratory Analysis in the Diagnosis and Management of Diabetes Mellitus. Clin Chem 2023 — https://doi.org/10.1093/clinchem/hvad080 - Moebus S et al. Impact of time since last caloric intake on blood glucose levels. Eur J Epidemiol 2011 — https://doi.org/10.1007/s10654-011-9608-z - Spiegel K, Leproult R, Van Cauter E. Impact of sleep debt on metabolic and endocrine function. Lancet 1999 — https://doi.org/10.1016/S0140-6736(99)01376-8 ## Gamma-Glutamyl Transferase > A membrane enzyme of liver and bile-duct cells. It responds to alcohol, many medicines, liver fat and oxidative stress, so it is often raised on its own. Source: https://orviva.ai/learn/indicators/ggt (curated, human-reviewed) ### What is GGT? Gamma-glutamyl transferase (GGT) is an enzyme anchored to the outer surface of cell membranes, and the GGT measured in blood comes almost entirely from the liver and bile ducts. The kidney actually contains far more of it, but kidney GGT is shed into urine rather than blood. Unlike the aminotransferases, GGT is not simply a leak marker: liver cells make more of it when they are exposed to alcohol, certain drugs or oxidative stress, and shed it when bile flow is obstructed. That is why GGT is the most sensitive of the routine liver enzymes and the least specific — it rises in isolation more often than any other. ### What is GGT made of, and where does it come from? A glycoprotein made of a heavy and a light chain, held on the cell membrane by a single membrane-spanning segment on the heavy chain, with the active site facing outward. It sits on the bile-facing (canalicular) membrane of liver cells and on the cells lining the bile ducts. In blood it circulates largely bound to lipoprotein particles and membrane fragments, which is one reason it tracks lipids and body fat as closely as it does. ### What does GGT do in the body? GGT breaks down glutathione outside the cell so that its building blocks — especially cysteine — can be taken back in and used to make fresh glutathione, the cell's main antioxidant. That job explains its behaviour as a marker: cells under oxidative stress need more glutathione, make more GGT to recycle it, and some of that enzyme ends up in blood. It explains too why GGT predicts diabetes, heart disease and mortality across large populations, at levels well within the laboratory reference range — it is reporting antioxidant demand, not just liver injury. Alcohol and enzyme-inducing drugs add a second mechanism: they switch on the liver's detoxification machinery, and GGT production rises with it. ### What does a high GGT mean? A raised GGT means the liver or bile ducts are under chemical, metabolic or mechanical strain, and on its own it does not say which. Its usefulness lies in what it says about the other tests. When alkaline phosphatase is also raised, a high GGT confirms the ALP is coming from the liver rather than bone. When AST is higher than ALT, a high GGT supports an alcohol explanation. When every other liver test is normal, an isolated GGT elevation is very common, most often reflects alcohol, medicines or body fat, and — in the ACG 2017 guideline on abnormal liver chemistries — does not by itself call for liver imaging or further investigation. - Alcohol — the classic cause. GGT rises with regular intake in most heavy drinkers and takes four to five weeks of abstinence to fall back, so it reflects the recent weeks rather than last night. - Fatty liver, obesity and the insulin-resistance cluster. In people who do not drink, this is the most common explanation, and GGT often rises earlier and more than ALT does. - Enzyme-inducing medicines: phenytoin, carbamazepine, phenobarbital, rifampicin, and to a lesser degree many others including some antidepressants and statins. The rise reflects induction, not damage. - Obstructed bile flow — gallstones, strictures, primary biliary cholangitis, tumours — which raises GGT and ALP together, usually with bilirubin. - Chronic viral hepatitis and other chronic liver disease, in which GGT rises alongside the aminotransferases. - Congestion of the liver from heart failure, and less often pancreatic or kidney disease. - Smoking, which raises GGT independently of alcohol and liver fat. ### What does a low GGT mean? A low GGT carries no clinical concern and is not flagged by laboratories. If anything, population studies place the lowest cardiovascular and metabolic risk in people whose GGT sits at the bottom of the range. Women, non-drinkers and people taking oestrogen-containing contraception tend to run lower; an inherited absence of the enzyme exists but is vanishingly rare. - Female sex, no alcohol intake, low body fat — the ordinary reasons. - Oestrogen-containing contraception or hormone therapy. - Hypothyroidism, occasionally. ### What moves GGT apart from disease? - **Alcohol over the preceding weeks** (raises it): GGT responds to habitual intake more than to a single occasion, and its half-life in blood is around two to four weeks, so it normalises slowly. Four to six alcohol-free weeks before a repeat test are needed to see the true baseline; a shorter break underestimates alcohol's contribution. - **Enzyme-inducing medicines** (raises it): Anti-epileptics such as phenytoin, carbamazepine and phenobarbital, the antibiotic rifampicin, and some other drugs induce liver enzymes and can double GGT or more with no liver injury at all. A GGT that rises after a new prescription is far more often induction than harm. - **Body weight and visceral fat** (raises it): GGT rises with waist circumference, liver fat and triglycerides, and falls with weight loss. In non-drinkers it is one of the earliest laboratory signs of the insulin-resistance cluster, moving before fasting glucose does. - **Smoking** (raises it): Current smokers run higher than never-smokers after adjusting for alcohol and weight, consistent with GGT's role as an oxidative-stress marker. The effect is modest but real. - **Sex, age and hormones** (either direction): Men run higher than women, and many laboratories publish sex-specific limits. GGT rises gradually through adult life in both sexes, and oestrogen-containing contraception or hormone therapy lowers it slightly. - **Inherited set-point** (either direction): Twin studies attribute roughly half of the variation in GGT between people to genetics. Two people with the same weight and drinking habits can sit at different points of the range for that reason alone, which is why a change from an individual's own baseline is more informative than a single comparison with the population. ### How should you prepare for a GGT test? - Fasting is not strictly required for GGT, though the other liver and lipid tests drawn with it usually need it. - Report drinking over the previous month, not just the previous day — GGT reflects weeks of intake. - List every medicine, including anti-epileptics, rifampicin, hormonal contraception and herbal products; several raise or lower GGT without any liver injury. - Exercise before the draw does not affect GGT, so no rest period is needed on its account. - An isolated mildly raised GGT is best repeated after four to six alcohol-free weeks before any further investigation. ### References - Whitfield JB. Gamma Glutamyl Transferase. Crit Rev Clin Lab Sci 2001 — https://doi.org/10.1080/20014091084227 - Kwo PY, Cohen SM, Lim JK. ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries. Am J Gastroenterol 2017 — https://doi.org/10.1038/ajg.2016.517 - Lee DH, Blomhoff R, Jacobs DR. Is serum gamma glutamyltransferase a marker of oxidative stress? Free Radic Res 2004 — https://doi.org/10.1080/10715760410001694026 - Koenig G, Seneff S. Gamma-Glutamyltransferase: A Predictive Biomarker of Cellular Antioxidant Inadequacy and Disease Risk. Dis Markers 2015 — https://doi.org/10.1155/2015/818570 - Giannini EG, Testa R, Savarino V. Liver enzyme alteration: a guide for clinicians. CMAJ 2005 — https://doi.org/10.1503/cmaj.1040752 ## Glycated Hemoglobin (HbA1c) > The fraction of your haemoglobin that has sugar stuck to it. Because red blood cells live about three months, it reads as a running average of blood glucose rather than a snapshot. Source: https://orviva.ai/learn/indicators/hba1c (curated, human-reviewed) ### What is HbA1c? Glucose in the bloodstream attaches to haemoglobin slowly and without any enzyme involved, and once attached it stays attached for that red cell's remaining life. HbA1c is the percentage of haemoglobin carrying such a sugar. It is not something the body regulates or uses — it is a record left behind, which is exactly what makes it useful. ### What is HbA1c made of, and where does it come from? Specifically, glucose bound to the N-terminal valine of the haemoglobin beta chain, forming a stable Amadori product. Results are reported either as a percentage of total haemoglobin (NGSP/DCCT units) or in mmol/mol (IFCC units) — the same measurement on two scales, so check which one your report uses before comparing numbers. ### What does HbA1c do in the body? HbA1c has no physiological job. Its value comes from the arithmetic of red cell turnover: cells are replaced continuously over roughly 120 days, so at any moment the population carries a weighted memory of past glucose exposure — around half of the result reflects the most recent month, the rest the two months before. This is also its main limitation: anything that changes how long red cells survive changes the result without any change in blood sugar. ### What does a high HbA1c mean? A raised HbA1c usually means average blood glucose has been running high, and it is one of the accepted ways to diagnose prediabetes and diabetes. Before accepting that reading, rule out the false elevations below — anything that makes red cells live longer than usual inflates the number. Diagnosis rests on repeat testing and clinical context, not on a single result. - Genuinely elevated average glucose — insulin resistance, prediabetes or diabetes. - Iron deficiency anaemia, which lengthens red cell survival and can raise HbA1c by a meaningful margin with no change in glucose at all. Correcting the iron deficiency lowers it again. - Vitamin B12 or folate deficiency, splenectomy, and advanced kidney disease — all reduce red cell turnover. - Corticosteroids and some other medications that raise glucose. ### What does a low HbA1c mean? A low HbA1c is only reassuring when red cell turnover is normal. Anything that shortens red cell life — bleeding, haemolysis, a recent transfusion, pregnancy, erythropoietin treatment — removes glycated cells early and produces a falsely low result. In those situations HbA1c should not be used to assess glucose control at all; fructosamine or continuous glucose monitoring is used instead. - Recent blood loss, haemolysis, or a blood transfusion. - Pregnancy, in which red cell turnover speeds up. - Chronic liver disease, or erythropoietin / iron therapy in progress. - Genuinely low average glucose, including recurrent hypoglycaemia in treated diabetes. ### What moves HbA1c apart from disease? - **Red blood cell lifespan — the dominant factor** (either direction): Longer-lived cells push the result up, shorter-lived cells pull it down, with no change in blood glucose either way. If HbA1c disagrees with your fasting glucose or your meter, this is the first thing to check. - **Iron status** (either direction): Iron deficiency raises HbA1c; starting iron treatment then lowers it. Interpreting an HbA1c without knowing iron status is a common source of confusion in menstruating women. - **Haemoglobin variants** (either direction): HbS, HbC, HbE and thalassaemia traits interfere with some assay methods and not others. If a variant is known or suspected, the laboratory needs to be told so it can pick a suitable method. - **Kidney disease** (either direction): Advanced kidney disease shortens red cell survival while uraemia interferes with some assays, and treatment with erythropoietin lowers the result further. Results need cautious reading. - **The averaging window itself** (either direction): HbA1c lags real change by weeks. Retesting a month after a diet or medication change will understate the improvement; three months is the usual interval. - **What it cannot see** (either direction): Being an average, HbA1c hides variability. Frequent highs cancelled by frequent lows can produce a comfortable-looking result. Continuous glucose monitoring shows that pattern; HbA1c does not. ### How should you prepare for a HbA1c test? - No fasting is needed and the sample can be taken at any time of day. - Allow three months between tests. Retesting sooner mostly measures noise, because the averaging window has not turned over. - Tell the clinician about anaemia, a recent transfusion, pregnancy, kidney disease or a known haemoglobin variant — each changes how the result should be read. - Check the units. A result in percent and one in mmol/mol are the same measurement on different scales and cannot be compared directly. ### References - American Diabetes Association. Diagnosis and Classification of Diabetes — Standards of Care in Diabetes 2024. Diabetes Care 2024 — https://doi.org/10.2337/dc24-S002 - Umpierre D et al. Physical activity advice only or structured exercise training and association with HbA1c levels in type 2 diabetes. JAMA 2011 — https://doi.org/10.1001/jama.2011.576 - Radin MS. Pitfalls in haemoglobin A1c measurement: when results may be misleading. J Gen Intern Med 2014 — https://doi.org/10.1007/s11606-013-2595-x ## HDL Cholesterol > Cholesterol carried by high-density lipoprotein particles. A low value marks higher cardiovascular risk, but raising the number alone has not prevented events. Source: https://orviva.ai/learn/indicators/hdl_c (curated, human-reviewed) ### What is HDL-C? HDL cholesterol is the cholesterol carried inside high-density lipoprotein particles, the smallest and densest lipoproteins in blood. Like LDL-C, it measures cargo rather than vehicles: it reports how much cholesterol the HDL fraction holds, not how many HDL particles there are or how well they work. That distinction has become central, because the evidence of the last decade links protection to what HDL particles do, not to how much cholesterol they happen to contain. ### What is HDL-C made of, and where does it come from? HDL particles are built around apolipoprotein A-I, often joined by apoA-II, enclosing a small core of cholesteryl esters and triglycerides. They are a heterogeneous family, ranging from small lipid-poor discs newly released by the liver and intestine to larger cholesterol-laden spheres. The laboratory measures the cholesterol left after apoB-containing particles have been precipitated or masked, so 'HDL-C' is in effect the cholesterol that is not in LDL, VLDL or chylomicrons. ### What does HDL-C do in the body? HDL's best-known task is reverse cholesterol transport: collecting surplus cholesterol from peripheral cells, including macrophages in the artery wall, and returning it to the liver for disposal in bile. HDL particles also carry antioxidant and anti-inflammatory enzymes such as paraoxonase-1 and support the function of the vessel lining. A high HDL-C, however, does not guarantee that any of this is happening. Mendelian randomisation by Voight and colleagues (Lancet 2012) found that genetic variants which raise HDL-C do not lower the risk of heart attack, and drugs that raised HDL-C substantially — niacin, CETP inhibitors — failed to cut events in proportion. HDL-C is therefore read as a marker of metabolic health, travelling with insulin sensitivity, low triglycerides, normal weight and not smoking, rather than as a lever that can be pulled on its own. ### What does a high HDL-C mean? A high HDL-C usually reflects a favourable metabolic state and the habits behind it — regular exercise, a healthy weight, not smoking — which are protective in their own right. It is not protection in itself, and the relationship with outcomes is not a straight line: in the Copenhagen cohort analysis by Madsen and colleagues (Eur Heart J 2017), people with extremely high HDL-C — above about 2.5 mmol/L (97 mg/dL) in men and 3.0 mmol/L (116 mg/dL) in women — had higher all-cause mortality than those with intermediate values, not lower. Very high values can also come from heavy alcohol use, certain medications, or genetic variants such as CETP deficiency that bring no cardiovascular benefit. A high HDL-C is best read as 'no added concern from this number', not as a reason to disregard LDL-C, apoB or blood pressure. - Regular aerobic exercise, a healthy body weight and good insulin sensitivity — the ordinary, favourable reasons. - Alcohol, which raises HDL-C in proportion to intake without conferring the protection the number would suggest. - Oestrogen — higher levels in women than men, and a rise with oral oestrogen therapy. - Inherited variants in CETP, hepatic lipase or SR-BI that slow HDL clearance; some are neutral for the heart, others are not. - Medications such as fibrates, niacin and some anticonvulsants. ### What does a low HDL-C mean? A low HDL-C is one of the most consistent markers of raised cardiovascular risk in population studies, and it usually arrives with the rest of the insulin-resistance cluster: high triglycerides, abdominal fat, raised fasting glucose and higher blood pressure. The 2019 ESC/EAS guideline lists HDL-C below 1.0 mmol/L (40 mg/dL) in men and 1.2 mmol/L (45 mg/dL) in women as a marker of increased risk, and the 2018 AHA/ACC guideline counts a low HDL-C among the features of metabolic syndrome that enhance risk. The useful response targets the causes — weight, activity, smoking, triglycerides — because those change risk; medications that raise HDL-C on its own have not. - Insulin resistance, abdominal obesity and type 2 diabetes, which raise triglycerides and speed the breakdown of HDL particles. - Smoking, which lowers HDL-C and impairs its function. - Physical inactivity and a diet high in refined carbohydrate and sugar. - Medications including anabolic steroids and other androgens, some progestins, beta-blockers, thiazide diuretics and isotretinoin. - Rare inherited disorders of apoA-I, ABCA1 (Tangier disease) or LCAT, in which HDL-C is extremely low from birth. ### What moves HDL-C apart from disease? - **Alcohol** (raises it): Alcohol raises HDL-C in a dose-dependent way, mostly by increasing apoA-I production, and the effect is visible in anyone who drinks regularly. The rise does not bring the protection normally associated with the number, so a good HDL-C in a regular drinker is less reassuring than the same value in a non-drinker. - **Smoking** (lowers it): Smokers run an HDL-C several percent lower than non-smokers, and the value recovers within weeks of stopping. A rise in HDL-C after quitting is one of the earliest measurable benefits. - **Sex hormones — menstrual cycle, pregnancy, menopause, contraception** (either direction): Oestrogen raises HDL-C and androgens lower it, which is why women run higher values than men from puberty onward. HDL-C moves modestly across the menstrual cycle, rises in pregnancy, drifts down after menopause, and shifts with oral contraceptives depending on the progestin they contain. - **Recent acute illness, infection or surgery** (lowers it): The acute-phase response drops HDL-C sharply, sometimes by a third or more, and the value takes weeks to recover. An HDL-C drawn during or shortly after an illness understates the usual level. - **Medications** (either direction): Anabolic steroids and testosterone, some progestins, beta-blockers, thiazides and isotretinoin lower HDL-C; fibrates, niacin, oral oestrogens and some anticonvulsants raise it. A change that coincides with a new or stopped prescription usually has that explanation. - **Which phase of weight change the sample falls in** (either direction): HDL-C typically falls while weight is actively being lost and then rises above the starting value once weight has stabilised. A value taken mid-diet can look worse than before the diet began; the result after a few weeks of stable weight is the meaningful one. ### How should you prepare for a HDL-C test? - Fasting is not needed for HDL-C, which changes very little after a meal. - Avoid testing during or within a few weeks of an infection, operation or other acute illness, when the value reads falsely low. - If weight is actively falling, wait until it has been stable for a few weeks; HDL-C dips during weight loss and recovers afterward. - Note recent alcohol intake when reading the result. A value raised by drinking is not a protective value. - Read HDL-C next to triglycerides rather than alone; the pair says far more about insulin resistance than either does by itself. ### References - Madsen CM et al. Extreme high high-density lipoprotein cholesterol is paradoxically associated with high mortality in men and women: two prospective cohort studies. Eur Heart J 2017 — https://doi.org/10.1093/eurheartj/ehx163 - Voight BF et al. Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet 2012 — https://doi.org/10.1016/S0140-6736(12)60312-2 - Mach F et al. 2019 ESC/EAS Guidelines for the management of dyslipidaemias. Eur Heart J 2020 — https://doi.org/10.1093/eurheartj/ehz455 - Grundy SM et al. 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol. Circulation 2019 — https://doi.org/10.1161/CIR.0000000000000625 - Kodama S et al. Effect of aerobic exercise training on serum levels of high-density lipoprotein cholesterol: a meta-analysis. Arch Intern Med 2007 — https://doi.org/10.1001/archinte.167.10.999 ## Hemoglobin > The iron-containing protein in red blood cells that carries oxygen. Its concentration in blood is how anaemia, and its opposite polycythaemia, are defined. Source: https://orviva.ai/learn/indicators/hgb (curated, human-reviewed) ### What is Hb? Haemoglobin (Hb, HGB) is the protein that fills red blood cells and gives blood its colour; each red cell is roughly a third haemoglobin by weight. The laboratory value is a concentration — grams of haemoglobin per litre of whole blood — so it depends on two separate things: how much haemoglobin the bone marrow has produced, and how much plasma that haemoglobin is diluted in. Most of what makes haemoglobin easy to misread comes from the second part: a person can have a perfectly normal red cell mass and still show a high value when dehydrated or a low one when plasma volume expands, as it does in pregnancy and endurance training. ### What is Hb made of, and where does it come from? Adult haemoglobin (HbA) is a tetramer of two alpha and two beta globin chains, each cradling a haem ring with a single ferrous iron atom at its centre — it is the iron that binds oxygen, which is why iron deficiency shows up first here. Small amounts of HbA2 (with delta chains) and fetal HbF (with gamma chains) persist in adults. Automated analysers measure haemoglobin directly by lysing the red cells and reading the colour of the released pigment, so it is one of the most precise values on a blood count. Results are reported in g/L or g/dL (120 g/L = 12.0 g/dL). ### What does Hb do in the body? Haemoglobin loads oxygen in the lungs and releases it in the tissues, carrying about 98% of the oxygen in blood; it also carries part of the carbon dioxide back and acts as the main buffer inside red cells. The four subunits cooperate — binding one oxygen makes the next easier — which produces the S-shaped oxygen curve that lets haemoglobin fill completely in the lungs yet unload readily where oxygen is scarce, acidic or warm. Production is governed by the kidney: when it senses low oxygen it releases erythropoietin (EPO), which drives the marrow to make more red cells over one to two weeks. Making them needs iron, vitamin B12, folate and a working marrow, and the finished cells last about 120 days, so any shortfall in supply or shortening of survival shows up in the haemoglobin concentration within weeks to months. ### What does a high Hb mean? A high haemoglobin means either that there are more red cells than usual or that there is less plasma to dilute them, and the second explanation is far more common. Dehydration, smoking, living or recently travelling at altitude, and nightly oxygen dips from untreated sleep apnoea account for most raised values in otherwise well people. A persistently high value that is not explained by those is what prompts investigation for polycythaemia vera, a bone-marrow disorder in which red cells are overproduced independently of EPO, usually with a JAK2 mutation and often with a raised platelet and white cell count alongside. The concern with any sustained polycythaemia is that thicker blood flows less easily and clots more readily. - Dehydration or haemoconcentration — hot weather, prolonged fasting, diuretics, or simply a sample drawn after standing for a long time. - Smoking: carbon monoxide occupies haemoglobin, and the body compensates by making more of it. Heavy smokers commonly run 10-20 g/L above their non-smoking baseline. - Altitude, chronic lung disease, cyanotic heart disease and untreated sleep apnoea — anything that keeps blood oxygen low and EPO high. - Testosterone therapy, anabolic steroids, or erythropoietin used as a drug or a doping agent. - Polycythaemia vera, and rarely an EPO-producing kidney or liver tumour. ### What does a low Hb mean? A low haemoglobin is anaemia, and anaemia is a finding rather than a diagnosis: it always has a cause, and the cause is what matters. The 2024 WHO guideline defines anaemia at haemoglobin below 130 g/L in men, below 120 g/L in non-pregnant women and, with trimester-specific adjustments, below 110 g/L in pregnancy, with population adjustments for altitude and smoking. Worldwide the most common cause by far is iron deficiency — from menstrual loss, pregnancy, low intake or gut blood loss — and Camaschella's 2015 review notes that in men and post-menopausal women a new iron-deficiency anaemia is treated as a sign of gastrointestinal bleeding until shown otherwise. The mean cell volume (MCV) on the same blood count sorts the likely causes: small cells point to iron deficiency or thalassaemia trait, large cells to B12 or folate deficiency, alcohol or thyroid disease, and normal-sized cells to chronic inflammation, kidney disease or recent blood loss. - Iron deficiency — heavy periods, pregnancy, a low-iron or plant-only diet, reduced absorption after gastric surgery or with coeliac disease, or slow bleeding from the gut. - Vitamin B12 or folate deficiency, including from pernicious anaemia, long-term metformin or acid-suppressing drugs, and a vegan diet without B12 supplementation. - Anaemia of chronic inflammation or of chronic kidney disease, where iron is locked away or EPO production falls. - Inherited red cell conditions such as thalassaemia trait, which gives a lifelong mildly low haemoglobin with small red cells and normal iron stores. - Physiological dilution — the second and third trimesters of pregnancy, and the expanded plasma volume of endurance athletes — in which total haemoglobin is normal or even increased. - Recent blood loss, haemolysis, or a bone marrow disorder; the last is uncommon and usually shows up with abnormal white cells or platelets as well. ### What moves Hb apart from disease? - **Altitude** (raises it): Thinner air means less oxygen, so the kidney raises EPO and haemoglobin climbs — by roughly 10-15 g/L at 2,500 m and considerably more higher up. The change begins within days of arrival and takes weeks to reverse after descent, and the WHO applies altitude corrections when defining anaemia. Populations native to high altitude differ: Andean groups run very high haemoglobin, whereas Tibetans have adapted in other ways and keep values close to sea-level norms. - **Hydration and posture** (either direction): Haemoglobin is a concentration, so anything that changes plasma volume changes it with no change in red cells. Dehydration, a hot day or a long fast pushes it up by several g/L; standing for 15-20 minutes before the draw shifts plasma into the legs and raises it further, while lying down lowers it. Over-drinking water before a test does the reverse. - **Smoking** (raises it): Carbon monoxide from smoke binds haemoglobin far more tightly than oxygen does, so part of a smoker's haemoglobin is out of service and the marrow makes extra to compensate. The result is that a smoker's 'normal' is higher, and an iron-deficient smoker can have a haemoglobin that looks fine. The WHO recommends adjusting anaemia thresholds upward in smokers for this reason. - **Pregnancy** (lowers it): Plasma volume expands by up to half during pregnancy while red cell mass grows less, so haemoglobin falls physiologically from the second trimester, reaching its lowest point around 28-32 weeks. This is why pregnancy has its own thresholds and why the fall is only a concern when it goes beyond them or when iron stores are low. - **Sex and menstruation** (either direction): Men run higher haemoglobin than women by around 15-20 g/L, because testosterone stimulates red cell production and because menstruation is a recurring iron loss. Heavy periods are the most common cause of iron deficiency in premenopausal women, and the gap narrows after the menopause. Sex-specific reference ranges reflect this difference rather than any difference in what is healthy. - **Recent blood donation or endurance training** (lowers it): A standard whole-blood donation removes roughly 200-250 mg of iron and lowers haemoglobin by about 10 g/L; the concentration recovers in weeks but the iron takes months, which is why frequent donors drift into iron deficiency. Endurance training expands plasma volume within days, so a trained runner's haemoglobin reads lower than the same person untrained despite a larger total haemoglobin mass — the so-called sports anaemia, which is not anaemia at all. ### How should you prepare for a Hb test? - Normal hydration and a few minutes seated before the draw give the most representative result; a sample taken dehydrated, after prolonged standing, or after drinking a great deal of water reads higher or lower than the true value. - Fasting is not required for haemoglobin, although it may be for other tests drawn at the same time. - Recent blood donation, a stay at altitude, pregnancy and smoking each shift the value and are worth noting on the request so the result is read against the right baseline. - A low haemoglobin is best interpreted with ferritin, MCV and, where relevant, B12 and folate from the same draw; haemoglobin alone shows that anaemia exists but not why. - Check the units: g/L and g/dL differ tenfold, and the same value can look alarming or unremarkable depending on which is printed. ### References - Camaschella C. Iron-deficiency anemia. N Engl J Med 2015 — https://doi.org/10.1056/NEJMra1401038 - World Health Organization. Guideline on haemoglobin cutoffs to define anaemia in individuals and populations. WHO 2024 — https://www.who.int/publications/i/item/9789240088542 - Beutler E, Waalen J. The definition of anemia: what is the lower limit of normal of the blood hemoglobin concentration? Blood 2006 — https://doi.org/10.1182/blood-2005-07-3046 - Pasricha SR et al. Iron deficiency. Lancet 2021 — https://doi.org/10.1016/S0140-6736(20)32594-0 - Beall CM. Two routes to functional adaptation: Tibetan and Andean high-altitude natives. Proc Natl Acad Sci USA 2007 — https://doi.org/10.1073/pnas.0701985104 ## LDL Cholesterol > The cholesterol carried by low-density lipoprotein particles. Unlike most lab values, this one is not merely a marker of risk — genetic and trial evidence together show it is a cause of atherosclerosis. Source: https://orviva.ai/learn/indicators/ldl_c (curated, human-reviewed) ### What is LDL-C? Cholesterol does not dissolve in blood, so it travels inside lipoprotein particles. LDL-C is the mass of cholesterol carried by the low-density ones. Importantly, it measures cargo, not vehicles: two people with the same LDL-C can be carrying very different numbers of particles, which is why apolipoprotein B is sometimes measured alongside it. ### What is LDL-C made of, and where does it come from? Each LDL particle carries exactly one molecule of apolipoprotein B-100 wrapped around a core of cholesteryl esters and triglycerides, with a surface shell of phospholipids and free cholesterol. The 'one apoB per particle' rule is what makes apoB a direct particle count. ### What does LDL-C do in the body? LDL particles deliver cholesterol to tissues that need it for cell membranes and for making steroid hormones and bile acids. The liver clears them from circulation through LDL receptors, whose recycling is regulated by PCSK9 — the target of a whole drug class. Atherosclerosis begins when apoB-containing particles cross the arterial lining and are retained there; the longer the exposure and the higher the concentration, the more plaque accumulates. ### What does a high LDL-C mean? Higher LDL-C means more cholesterol-carrying particles available to enter the artery wall, and a correspondingly higher lifetime risk of heart attack and stroke. The effect is cumulative — it is concentration multiplied by years of exposure that matters, which is why a moderately raised value at 30 is not a small thing. What counts as a target is not universal: it depends on overall cardiovascular risk, and is set with a clinician rather than read off a lab range. - Dietary pattern high in saturated fat and, in some people, in dietary cholesterol. - Familial hypercholesterolaemia — an inherited receptor defect. Worth considering when LDL-C is very high, when it is high from a young age, or when heart disease runs early in the family. - Untreated hypothyroidism, which reduces LDL receptor activity and is a genuinely reversible cause. - Nephrotic syndrome, cholestatic liver disease, and some medications including corticosteroids and certain immunosuppressants. - Weight gain and insulin resistance, which typically raise triglycerides and shift LDL toward smaller, denser particles. ### What does a low LDL-C mean? Low LDL-C is generally favourable, and no threshold has been found below which lowering it with medication stops being beneficial. A low value that was not the result of treatment or diet is worth a second look, since it can accompany hyperthyroidism, malnutrition, malabsorption, advanced liver disease, or an inherited lipoprotein disorder. - Lipid-lowering treatment working as intended. - Hyperthyroidism. - Malnutrition, malabsorption, or advanced liver disease. - Acute severe illness or the weeks following a heart attack. ### What moves LDL-C apart from disease? - **How LDL-C was obtained — calculated or measured directly** (either direction): Most laboratories calculate LDL-C from other lipids using the Friedewald equation, which becomes unreliable when triglycerides are high (above roughly 4.5 mmol/L) and tends to underestimate at low LDL-C. If your value looks inconsistent with the rest of the panel, check which method the report used. - **Recent acute illness, surgery or heart attack** (lowers it): LDL-C falls for several weeks afterwards and can read deceptively normal. A value drawn during or just after an acute event does not represent the usual level. - **Thyroid status** (either direction): An underactive thyroid raises LDL-C and an overactive one lowers it. Thyroid function is usually checked before treating a newly found elevation. - **Pregnancy** (raises it): Lipids rise substantially and physiologically through pregnancy. Screening results from this period are not comparable with baseline. - **Fasting** (either direction): Non-fasting samples are acceptable for routine screening under current European guidance. Fasting matters mainly when triglycerides are high, because that is when the calculation degrades. - **Weight change** (either direction): Losing weight tends to lower LDL-C modestly; the larger effects of weight loss usually show up in triglycerides and HDL-C. ### How should you prepare for a LDL-C test? - Fasting is not required for routine screening; fast if triglycerides are known to be high or the clinician asks. - Do not test during or in the weeks after an acute illness, surgery or heart attack — the value will read low. - Check whether the report says the LDL-C was calculated or directly measured, especially when triglycerides are high. - Compare like with like over time: the same laboratory and the same method, since between-method differences can exceed real change. ### References - Ference BA et al. Low-density lipoproteins cause atherosclerotic cardiovascular disease — EAS Consensus Panel. Eur Heart J 2017 — https://doi.org/10.1093/eurheartj/ehx144 - Mach F et al. 2019 ESC/EAS Guidelines for the management of dyslipidaemias. Eur Heart J 2020 — https://doi.org/10.1093/eurheartj/ehz455 - Gylling H et al. Plant sterols and plant stanols in the management of dyslipidaemia — EAS Consensus Panel. Atherosclerosis 2014 — https://doi.org/10.1016/j.atherosclerosis.2013.11.043 ## Total Cholesterol > The cholesterol carried by every lipoprotein in the blood, added together. Useful for screening, but the split between LDL and HDL is what carries the meaning. Source: https://orviva.ai/learn/indicators/tc (curated, human-reviewed) ### What is TC? Total cholesterol is the sum of the cholesterol carried by every lipoprotein class in a blood sample — LDL, HDL, VLDL, intermediate-density particles and, in a non-fasting sample, chylomicron remnants. It is the oldest and simplest lipid measurement, and most of its value today lies in what it is made of: the same total can conceal a favourable or an unfavourable balance between atherogenic particles and HDL, which is why a lipid panel reports the fractions alongside it. ### What is TC made of, and where does it come from? In most adults roughly two-thirds of total cholesterol travels in LDL, about a quarter in HDL, and the remainder in VLDL and other triglyceride-rich particles. Chemically, most of it circulates as cholesteryl esters in the particle core, with a smaller share as free cholesterol in the surface layer; the laboratory assay hydrolyses the esters and measures both forms together, which is what the word 'total' refers to. ### What does TC do in the body? Cholesterol is a structural component of every cell membrane and the raw material for steroid hormones, bile acids and vitamin D. The liver makes most of it and sets the blood level by exporting VLDL, which matures into LDL, and by clearing LDL through its receptors; food contributes less than most people assume, because intestinal absorption is limited and hepatic synthesis adjusts to compensate. Total cholesterol predicts cardiovascular risk in populations largely because LDL-C dominates it: in the 2007 Prospective Studies Collaboration analysis of 61 cohorts, each 1 mmol/L lower total cholesterol was associated with about half the ischaemic heart disease mortality at ages 40-49, and about a sixth lower at ages 70-89. ### What does a high TC mean? A high total cholesterol usually means a high LDL-C, and the risk attached to it is the risk of LDL: more cholesterol-carrying particles entering the artery wall over more years. The exception is a total pushed up by an unusually high HDL-C, which carries a different meaning, so the split is read before the total is interpreted. The 2019 ESC/EAS guideline uses total cholesterol as an input to risk scores such as SCORE but sets treatment goals on LDL-C and non-HDL-C, not on the total; the 2018 AHA/ACC guideline likewise anchors decisions on LDL-C. - A dietary pattern high in saturated fat — butter, fatty meat, palm and coconut oil — and, in some people, in dietary cholesterol. - Familial hypercholesterolaemia, an inherited LDL-receptor defect. Suspected when the total is very high from a young age or heart disease runs early in the family. - Untreated hypothyroidism, which slows LDL clearance and is fully reversible once treated. - Nephrotic syndrome, cholestatic liver disease, and medications such as corticosteroids, ciclosporin, thiazide diuretics and some retinoids. - The menopausal transition, across which total and LDL cholesterol rise by roughly 10% as oestrogen falls. - An unusually high HDL-C, which raises the total without adding atherogenic particles. ### What does a low TC mean? A low total cholesterol is usually unimportant, and when it reflects a low LDL-C it is generally favourable — no level has been identified below which lower LDL-C stops benefiting the heart. The exceptions are falls that happen without any change in diet or medication: total cholesterol drops in hyperthyroidism, malabsorption, malnutrition, advanced liver disease, chronic inflammation and some cancers, and for several weeks after any acute illness or operation. An unexplained fall is therefore a reason to look at the whole picture rather than a result to celebrate. - Lipid-lowering treatment or a deliberate dietary change doing what it was meant to. - Hyperthyroidism, which speeds LDL clearance. - Malabsorption — coeliac disease, pancreatic insufficiency, bowel surgery — or general malnutrition. - Advanced liver disease, chronic inflammation, or the weeks following an acute illness or heart attack. - Rare inherited disorders of apolipoprotein B such as hypobetalipoproteinaemia. ### What moves TC apart from disease? - **Posture and tourniquet time at the blood draw** (raises it): Standing concentrates lipoproteins by around 5-10% compared with lying down, and a tourniquet left on for more than a minute does the same locally. Blood drawn seated after several minutes of rest is the standard against which reference values were set. - **Pregnancy** (raises it): Total cholesterol rises by roughly 30-50% by the third trimester as a normal part of pregnancy and returns to baseline over the weeks after delivery. A result from this period says little about the usual level. - **Recent acute illness, surgery or heart attack** (lowers it): Any significant inflammatory episode lowers total cholesterol for several weeks, so a value taken in hospital or shortly after an infection can look reassuringly normal while the usual level is higher. Lipids drawn within 24 hours of a heart attack are the accepted exception, because they still reflect the pre-event state. - **Season and ordinary day-to-day variation** (either direction): Total cholesterol runs a few percent higher in winter than in summer, and within-person biological variation is around 5-6% even under identical conditions. A change smaller than about 10% between two tests is within the noise and does not by itself show that anything has changed. - **Medications** (either direction): Oral contraceptives and other oestrogens, corticosteroids, thiazide diuretics, ciclosporin, isotretinoin and some antiretrovirals raise total cholesterol; statins, ezetimibe, bile-acid sequestrants and PCSK9 inhibitors lower it. A change that coincides with a new prescription is more likely to be the prescription than the diet. - **Fasting** (either direction): Total cholesterol changes by only about 0.2 mmol/L after an ordinary meal, which is why the 2016 EAS/EFLM joint statement accepts non-fasting samples for routine lipid testing. The fraction that does move after eating is triglycerides, so a non-fasting panel alters the calculated LDL-C more than it alters the total. ### How should you prepare for a TC test? - Fasting is not required for routine screening; the total changes little after a meal. Fast if triglycerides are known to be high or a calculated LDL-C is needed. - Sit for several minutes before the draw and ask that the tourniquet be released promptly; posture and venous stasis can shift the result by 5-10%. - Avoid testing during or in the weeks after an infection, operation or heart attack, when the value reads falsely low. - Ask for the full panel, not the total alone. LDL-C, HDL-C and triglycerides — or apoB — are what turn the total into something interpretable. - Track change using the same laboratory and method. Between-laboratory differences can be as large as the change being looked for. ### References - Mach F et al. 2019 ESC/EAS Guidelines for the management of dyslipidaemias. Eur Heart J 2020 — https://doi.org/10.1093/eurheartj/ehz455 - Grundy SM et al. 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol. Circulation 2019 — https://doi.org/10.1161/CIR.0000000000000625 - Prospective Studies Collaboration (Lewington S et al.). Blood cholesterol and vascular mortality by age, sex, and blood pressure: a meta-analysis of individual data from 61 prospective studies. Lancet 2007 — https://doi.org/10.1016/S0140-6736(07)61778-4 - Nordestgaard BG et al. Fasting is not routinely required for determination of a lipid profile — joint consensus statement from the EAS and EFLM. Eur Heart J 2016 — https://doi.org/10.1093/eurheartj/ehw152 ## Triglycerides > Fat in the blood, carried mainly by VLDL and chylomicrons. Rises with recent meals, alcohol and insulin resistance; very high values raise pancreatitis risk. Source: https://orviva.ai/learn/indicators/tg (curated, human-reviewed) ### What is TG? Triglycerides are the main form in which the body stores and transports fat: three fatty acids attached to a glycerol backbone. In blood they travel inside triglyceride-rich lipoproteins — chylomicrons, which the intestine assembles after a meal, and VLDL, which the liver exports around the clock. The laboratory value is the total triglyceride mass across all particles, which is why it swings far more with meals, alcohol and the events of the past few days than cholesterol does. ### What is TG made of, and where does it come from? In a fasting sample almost all triglyceride sits in VLDL, with small amounts in LDL and HDL; after a meal chylomicrons join the pool and can dominate it for several hours. The assay hydrolyses triglyceride to glycerol and measures the glycerol, so free glycerol already in the sample — raised by hard exercise, stress or certain intravenous fluids — is counted as triglyceride unless the method corrects for it. ### What does TG do in the body? Triglycerides deliver fatty acids to muscle for fuel and to adipose tissue for storage; lipoprotein lipase on capillary walls, switched on by insulin, strips the fatty acids from passing particles. When insulin action is impaired the whole system backs up: adipose tissue releases more fatty acids to the liver, the liver exports more VLDL, clearance slows, and triglycerides rise while HDL-C falls and LDL shifts toward small dense particles. Genetic and cohort evidence reviewed by Nordestgaard and Varbo (Lancet 2014) indicates that the cholesterol in triglyceride-rich remnant particles contributes causally to atherosclerosis rather than merely marking it, because remnants enter the artery wall much as LDL does. Very high triglycerides carry a second, separate hazard — acute pancreatitis — which becomes a real concern above roughly 10 mmol/L (885 mg/dL). ### What does a high TG mean? Raised triglycerides most often signal insulin resistance — excess visceral fat, a diet high in refined carbohydrate and alcohol, physical inactivity, or type 2 diabetes — and are read together with HDL-C, waist circumference and glucose rather than alone. The 2018 AHA/ACC guideline treats persistently raised fasting triglycerides of 1.7 mmol/L (150 mg/dL) or more as a risk-enhancing factor; the 2011 AHA scientific statement classes 2.3-5.6 mmol/L (200-499 mg/dL) as high and 5.6 mmol/L (500 mg/dL) or more as very high, the range where preventing pancreatitis becomes the first priority. A single elevated result carries limited weight, because triglycerides vary more from day to day than any other lipid; a repeat under standard conditions is the usual first step. - Overweight with excess visceral fat, insulin resistance, prediabetes or type 2 diabetes — the most common cause by far. - A diet high in refined carbohydrate and sugar, particularly fructose from sugar-sweetened drinks, which the liver converts directly into triglyceride. - Alcohol, which increases hepatic triglyceride synthesis and slows clearance; the effect is dose-dependent and exaggerated in people who are already prone. - Medications including oral oestrogens, isotretinoin, corticosteroids, thiazide diuretics, non-selective beta-blockers, some antipsychotics, tamoxifen and some antiretrovirals. - Hypothyroidism, chronic kidney disease, nephrotic syndrome and pregnancy. - Inherited disorders — familial hypertriglyceridaemia, familial combined hyperlipidaemia, and rare lipoprotein lipase deficiency, in which values can exceed 10 mmol/L from childhood. ### What does a low TG mean? A low triglyceride value is almost always unimportant and usually reflects a lean, insulin-sensitive, physically active state or a very low-fat diet. The rare exceptions are unexplained low values, especially when total cholesterol is low at the same time: malabsorption from coeliac disease or pancreatic insufficiency, malnutrition, hyperthyroidism, and rare inherited disorders of apolipoprotein B such as abetalipoproteinaemia. In those cases the triglyceride value is a bystander pointing at something else, not a problem in itself. - A lean, active, insulin-sensitive metabolism. - A very low-fat or low-calorie diet in the preceding days. - Hyperthyroidism, which speeds lipoprotein clearance. - Malabsorption or malnutrition. - Rare inherited disorders of apolipoprotein B. ### What moves TG apart from disease? - **Fasting state — the largest single factor** (raises it): Triglycerides rise by around 0.3 mmol/L on average after an ordinary meal and peak at about four hours; a large fatty meal can double the fasting value. The 2016 EAS/EFLM joint statement accepts non-fasting samples for routine lipid testing, but advises a fasting repeat when non-fasting triglycerides exceed 5 mmol/L (440 mg/dL). A result should always be read with its fasting status attached. - **Alcohol in the preceding days** (raises it): A single evening of drinking can raise the next morning's fasting triglycerides noticeably, and a weekend of heavy drinking can push a normally unremarkable value into the high range. The effect is much larger in people with underlying insulin resistance or a genetic tendency. - **What was eaten in the previous week** (either direction): Several days of high carbohydrate or high sugar intake raise fasting triglycerides, and several days of carbohydrate restriction lower them, so the value reflects the recent week as much as the underlying metabolism. A test taken after a holiday, a celebration or a period of unusual eating describes that period, not the baseline. - **Exercise in the preceding 24 hours** (lowers it): A single prolonged bout of exercise lowers triglycerides for the next day or so, by around 20% in controlled studies, through increased lipoprotein lipase activity. A value drawn the morning after an unusually long run or ride understates the usual level. - **Ordinary biological variation** (either direction): Triglycerides have the largest within-person variation of any routine lipid, around 20% even under identical fasting conditions. Two results from the same person can differ by 20-30% by chance alone, which is why guidelines base decisions on the average of repeated measurements rather than a single value. - **Pregnancy** (raises it): Triglycerides rise two- to three-fold by the third trimester as a normal adaptation that supplies the fetus, and return to baseline over the weeks after delivery. A value from late pregnancy cannot be compared with a non-pregnant result. ### How should you prepare for a TG test? - When a fasting sample is requested, fast for 9-12 hours with water only; a non-fasting result is acceptable for screening but must be labelled as such. - Avoid alcohol for at least two to three days before the test, and keep to the usual diet — not a feast and not an unusually strict one. - Skip unusually long or hard exercise in the 24 hours before the draw; the day-after effect lowers the value. - Confirm a raised value with a repeat under the same conditions before acting on it. Day-to-day variation alone can move triglycerides by 20-30%. - Mention pregnancy, recent illness and any new medication — each changes how the result should be read. ### References - Miller M et al. Triglycerides and cardiovascular disease: a scientific statement from the American Heart Association. Circulation 2011 — https://doi.org/10.1161/CIR.0b013e3182160726 - Nordestgaard BG, Varbo A. Triglycerides and cardiovascular disease. Lancet 2014 — https://doi.org/10.1016/S0140-6736(14)61177-6 - Nordestgaard BG et al. Fasting is not routinely required for determination of a lipid profile — joint consensus statement from the EAS and EFLM. Eur Heart J 2016 — https://doi.org/10.1093/eurheartj/ehw152 - Grundy SM et al. 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol. Circulation 2019 — https://doi.org/10.1161/CIR.0000000000000625 - Bhatt DL et al. Cardiovascular risk reduction with icosapent ethyl for hypertriglyceridemia (REDUCE-IT). N Engl J Med 2019 — https://doi.org/10.1056/NEJMoa1812792 ## Thyroid Stimulating Hormone > The pituitary's signal setting the thyroid's workload. It runs opposite to thyroid hormone: high usually means an underactive gland, low an overactive one. Source: https://orviva.ai/learn/indicators/tsh (curated, human-reviewed) ### What is TSH? Thyroid stimulating hormone (TSH) is a hormone released by the pituitary gland at the base of the brain, not by the thyroid itself. Its job is to tell the thyroid to make and release thyroxine (T4) and triiodothyronine (T3). Because the pituitary raises TSH when thyroid hormone is scarce and lowers it when there is plenty, the TSH level is read backwards: it reports how hard the pituitary is having to push, which is an unusually sensitive measure of whether the thyroid is keeping up. ### What is TSH made of, and where does it come from? TSH is a glycoprotein of about 28 kDa made of two chains: an alpha subunit that it shares with LH, FSH and the pregnancy hormone hCG, and a beta subunit that is unique to TSH and gives it its activity. Modern third-generation immunoassays measure it down to about 0.01 mIU/L, which is what allows a suppressed TSH to be distinguished from a merely low one. The shared alpha subunit matters in practice, because very high hCG in early pregnancy can weakly stimulate the thyroid and push TSH down. ### What does TSH do in the body? TSH sits in the middle of a feedback loop: the hypothalamus releases TRH, which prompts the pituitary to release TSH, which prompts the thyroid to release T4 and T3, which in turn switch TRH and TSH off. The relationship is not linear but logarithmic — a fall in free T4 of only 20% roughly doubles TSH — so TSH amplifies small changes in thyroid output and changes long before T4 leaves its reference range. This amplification is why TSH is the usual first test of thyroid function and why, in most adults, a normal TSH makes a primary thyroid problem unlikely. The loop is slow: after any change in thyroid hormone supply, TSH takes six to eight weeks to settle at its new level. ### What does a high TSH mean? A high TSH usually means the thyroid is underactive and the pituitary is pushing harder to compensate — this is primary hypothyroidism, and it is far more common than any other explanation. When TSH is raised but free T4 is still normal, the state is called subclinical hypothyroidism; it is common, often transient, and the 2012 ATA/AACE guideline treats a TSH above 10 mIU/L differently from a milder elevation, which it suggests confirming on repeat testing before drawing conclusions. A single raised value therefore means 'look again', not 'the thyroid has failed' — non-thyroidal illness, assay interference and normal ageing all produce transient or mild elevations. - Hashimoto's autoimmune thyroiditis, the most common cause of an underactive thyroid in iodine-sufficient regions; thyroid peroxidase antibodies are usually positive. - Iodine deficiency, or, less intuitively, iodine excess from kelp supplements or iodine-rich medications, which can shut thyroid hormone production down. - The recovery phase of a significant illness, when TSH rebounds above normal for a few weeks. - Medications that suppress the thyroid, including lithium, amiodarone, interferon and some cancer immunotherapies, or previous thyroid surgery or radioiodine treatment. - In people taking thyroid hormone replacement, a dose that no longer covers their needs, missed doses, or the tablet being taken together with iron, calcium, coffee or a proton-pump inhibitor, all of which reduce its absorption. - Laboratory artefacts: heterophile antibodies or 'macro-TSH' complexes that give a high reading without any thyroid problem. Suspected when the TSH makes no clinical sense. ### What does a low TSH mean? A low TSH usually means there is more thyroid hormone in circulation than the pituitary wants, so it has gone quiet — either the thyroid is overactive, or thyroid hormone is being taken in a higher dose than the body needs. Low TSH with normal free T4 and T3 is called subclinical hyperthyroidism, and Biondi and Cooper's 2008 review in Endocrine Reviews links a persistently suppressed TSH, particularly below 0.1 mIU/L, with atrial fibrillation and bone loss in older adults. Two exceptions run the other way: in early pregnancy a mildly low TSH is physiological, and in the rare condition of central hypothyroidism the pituitary itself is failing, so TSH is low or misleadingly normal while free T4 is low. - Graves' disease, in which antibodies stimulate the thyroid directly, or one or more autonomously overactive thyroid nodules. - Thyroiditis — after a viral illness, after childbirth, or drug-induced — which leaks stored hormone and suppresses TSH for weeks, then often swings to a high TSH before recovering. - Thyroid hormone replacement at a dose above current needs, including deliberate suppression after thyroid cancer surgery. - First-trimester pregnancy, where hCG stimulates the thyroid; severe non-thyroidal illness; and treatment with glucocorticoids or dopamine. - High-dose biotin supplements, which produce a falsely low TSH together with a falsely high free T4 — a pattern that mimics Graves' disease on paper. ### What moves TSH apart from disease? - **Time of day** (either direction): TSH follows a daily rhythm, peaking around midnight to the early hours and reaching its lowest point in the late afternoon. Values drawn in the afternoon can run 20-30% below a morning value from the same person, which is enough to move a borderline result across a threshold. - **Biotin supplements** (lowers it): Biotin does not change thyroid function, but many TSH assays use a biotin-streptavidin link, and biotin in the blood competes with it. A 2017 JAMA study found that a week of 10 mg/day biotin produced falsely abnormal thyroid results in healthy volunteers. Doses in hair, skin and nail products are often far above this. - **Recent illness, surgery or hospitalisation** (either direction): During any significant illness the body dials thyroid signalling down, so TSH can read low; in the weeks of recovery it rebounds and can read high. Neither reflects the thyroid itself, and the pattern is called non-thyroidal illness or sick euthyroid syndrome. Thyroid function measured during an acute illness is generally regarded as uninterpretable. - **Pregnancy** (either direction): In the first trimester hCG stimulates the thyroid and TSH falls, sometimes below the non-pregnant range; it rises again in the second and third trimesters. The 2017 ATA pregnancy guideline calls for trimester-specific reference ranges, so a pregnant result read against the general adult range is easily misjudged in both directions. - **Glucocorticoids, dopamine and other medications** (either direction): Glucocorticoids (including prednisone courses and high-dose inhaled steroids), dopamine and somatostatin analogues suppress TSH release. Amiodarone, lithium, interferon and immune checkpoint inhibitors disturb the thyroid itself and can push TSH either way. Metformin slightly lowers TSH in people with hypothyroidism. - **Sleep loss, age and body weight** (either direction): A night without sleep blunts the nocturnal TSH surge and lowers the next morning's value. Independently, the normal TSH distribution shifts upward with age — a mildly raised TSH in someone over 70 is often not a disease — and obesity raises TSH modestly through leptin, with the value falling after weight loss without any thyroid treatment. ### How should you prepare for a TSH test? - Morning samples, taken at a consistent time, give the most comparable results because of the daily rhythm; fasting is not required. - Biotin supplements taken within the previous two to three days can corrupt the result. Laboratories generally ask for them to be paused before the draw and for the clinician to be told. - Thyroid function measured during or within about six weeks after a significant illness, surgery or hospital stay reflects the illness, not the thyroid. - The 2012 ATA/AACE guideline recommends re-checking TSH four to eight weeks after any change in thyroid hormone dose, because the feedback loop takes that long to settle. Testing sooner measures the transition, not the new steady state. - In pregnancy, the result belongs against trimester-specific ranges; pregnancy is worth stating on the request form. - A first abnormal TSH is confirmed by a repeat, usually with free T4 and antibodies added, before it is treated as a diagnosis. ### References - Garber JR et al. Clinical practice guidelines for hypothyroidism in adults: cosponsored by the American Association of Clinical Endocrinologists and the American Thyroid Association. Thyroid 2012 — https://doi.org/10.1089/thy.2012.0205 - Biondi B, Cooper DS. The clinical significance of subclinical thyroid dysfunction. Endocr Rev 2008 — https://doi.org/10.1210/er.2006-0043 - Ross DS et al. 2016 American Thyroid Association guidelines for diagnosis and management of hyperthyroidism and other causes of thyrotoxicosis. Thyroid 2016 — https://doi.org/10.1089/thy.2016.0229 - Li D et al. Association of biotin ingestion with performance of hormone and nonhormone assays in healthy adults. JAMA 2017 — https://doi.org/10.1001/jama.2017.13705 - Alexander EK et al. 2017 guidelines of the American Thyroid Association for the diagnosis and management of thyroid disease during pregnancy and the postpartum. Thyroid 2017 — https://doi.org/10.1089/thy.2016.0457 ## Uric Acid > The end product of purine breakdown, cleared by the kidneys and gut. Raised levels can crystallise in joints as gout and track closely with metabolic health. Source: https://orviva.ai/learn/indicators/ua (curated, human-reviewed) ### What is uric acid? Uric acid is what is left when the body breaks down purines — the building blocks of DNA, RNA and the energy carrier ATP. Most of it comes from the turnover of the body's own cells, with a smaller share from purines in food. Humans run higher levels than almost every other mammal because we lost the enzyme uricase during evolution and cannot break uric acid down any further; it has to be excreted as is, about two-thirds through the kidneys and one-third through the gut. Blood levels therefore reflect a balance between how much is made and how much the kidneys let go, and in most people with high levels it is the second half of that balance — reduced excretion — that is off. ### What is uric acid made of, and where does it come from? Uric acid is a small heterocyclic molecule (168 daltons) made in the final two steps of purine catabolism by the enzyme xanthine oxidase, which turns hypoxanthine into xanthine and xanthine into uric acid. At blood pH it circulates almost entirely as the urate ion, and results are reported as serum urate in mg/dL or µmol/L (1 mg/dL = 59.5 µmol/L). Its solubility limit in body fluids at 37 °C is about 6.8 mg/dL (405 µmol/L); above that, monosodium urate can crystallise in joints and soft tissue, which is the physical basis of gout. ### What does uric acid do in the body? Uric acid is mainly a waste product, but not entirely. In plasma it is the single largest antioxidant, accounting for roughly half of the blood's free-radical scavenging capacity, which is one reason humans may have tolerated losing uricase. Inside cells and at high concentrations the picture reverses: urate promotes oxidative stress, inflammation and, in laboratory studies, insulin resistance and raised blood pressure. The kidney handles it in an elaborate way — nearly all filtered urate is reabsorbed by transporters such as URAT1 and GLUT9, then a portion is secreted again, so only about 10% of what is filtered leaves in the urine. Small genetic differences in these transporters explain much of why serum urate varies between people, more than diet does. ### What does a high uric acid mean? A raised serum urate (hyperuricaemia) means the body is holding more urate than it clears, and it raises the likelihood of three things without guaranteeing any of them. The best known is gout: urate crystals in a joint provoke intensely painful flares, yet only a minority of people with high urate ever develop gout, and the risk climbs with the level and the years spent above the solubility limit. The second is kidney involvement — uric acid kidney stones, and an association in cohort studies with faster loss of kidney function. The third is cardiometabolic: high urate clusters with obesity, insulin resistance, high blood pressure, fatty liver and raised triglycerides, and is a marker of that cluster as much as a cause. The 2020 ACR gout guideline recommends against starting urate-lowering medication for hyperuricaemia alone, without gout, which reflects how uncertain the benefit of lowering the number by itself remains. - Reduced kidney excretion, which accounts for roughly nine in ten cases — inherited variants in urate transporters (SLC2A9, ABCG2), insulin resistance, chronic kidney disease, and drugs such as thiazide and loop diuretics, low-dose aspirin and ciclosporin. - Increased production from diet — organ meats, shellfish, beer and spirits, and fructose-sweetened drinks. - Increased production from rapid cell turnover — psoriasis, blood cancers, chemotherapy (tumour lysis), haemolysis. - Metabolic states — obesity, metabolic syndrome, fasting or ketogenic diets, and dehydration. - Rare enzyme defects of purine metabolism, usually apparent from childhood. ### What does a low uric acid mean? A low serum urate is usually harmless and most laboratories do not flag it. It is expected in people taking urate-lowering medicines, in pregnancy, and on very low-purine or plant-based diets. Cohort studies have reported associations between low urate and Parkinson's disease and some other neurodegenerative conditions, consistent with its antioxidant role, but the direction of cause is unclear and no action follows from a low value on its own. A persistently very low level can occasionally point to a rare kidney tubular disorder or an inherited xanthine oxidase deficiency. - Urate-lowering therapy for gout, or other drugs with a uricosuric side effect — losartan, fenofibrate, SGLT2 inhibitors, high-dose aspirin, some calcium channel blockers. - Pregnancy, especially the first two trimesters, and oestrogen therapy. - A very low-purine, largely plant-based diet. - Rare: hereditary xanthinuria, Fanconi syndrome, syndrome of inappropriate antidiuretic hormone. ### What moves uric acid apart from disease? - **Purine-rich meals in the preceding day** (raises it): Organ meats, shellfish, anchovies, sardines and large portions of red meat raise serum urate within hours, and the Health Professionals Follow-up Study found that meat and seafood intake predicted new gout over 12 years while purine-rich vegetables did not. Diet moves the level by less than genetics does, but it is what moves it from one day to the next. - **Alcohol and fructose** (raises it): Both work by the same route: their metabolism in the liver consumes ATP, and the purines released are converted to uric acid. Beer adds purines of its own and raises urate the most; spirits are next; wine in moderation has the weakest association. Sugar-sweetened soft drinks and fruit juice deliver fructose, and in prospective cohorts two or more servings a day roughly doubled the risk of gout. - **Diuretics and low-dose aspirin** (raises it): Thiazide and loop diuretics reduce urate excretion by the kidney and are among the most common medication-related causes of a raised level. Aspirin is dose-dependent: the low doses used for heart protection retain urate, while high anti-inflammatory doses increase its excretion. Neither is a reason to stop a prescribed drug — it is a reason to read the result in context. - **Fasting, ketosis and rapid weight loss** (raises it): Ketone bodies compete with urate for excretion in the kidney, so prolonged fasting, a ketogenic diet or the first weeks of aggressive weight loss push urate up and can trigger gout flares in people prone to them. Gradual weight loss lowers urate over the longer term. - **Strenuous exercise and dehydration** (raises it): Exhaustive exercise breaks down ATP in muscle and releases purines, and the sweat loss concentrates the blood. Serum urate rises for a day or so after a marathon or a heavy session, and dehydration is one of the classic triggers of a gout flare. - **Sex and hormonal status** (either direction): Oestrogen increases urate excretion, so premenopausal women run substantially lower than men of the same age and gout before the menopause is uncommon. Levels in women rise after the menopause and the gap narrows. Many laboratories therefore publish sex-specific reference intervals. ### How should you prepare for a uric acid test? - Fast overnight if the laboratory requests it, and avoid alcohol, organ meats and shellfish for 24 hours beforehand — each can raise the result on its own. - Avoid exhaustive exercise for 24 hours and drink normally; dehydration concentrates serum urate. - During a gout flare serum urate is often normal or even low, because inflammation increases its excretion. A value taken to assess gout is more informative two or more weeks after the flare has settled. - Mention diuretics, aspirin, and any recent start or stop of urate-lowering treatment, since each shifts the result. - Check the units. Reports use either mg/dL or µmol/L (1 mg/dL = 59.5 µmol/L), and the 6.8 mg/dL solubility threshold corresponds to about 405 µmol/L. - Day-to-day variation is meaningful; a single borderline value is worth repeating before conclusions are drawn. ### References - FitzGerald JD et al. 2020 American College of Rheumatology Guideline for the Management of Gout. Arthritis Care Res 2020 — https://doi.org/10.1002/acr.24180 - Dalbeth N, Gosling AL, Gaffo A, Abhishek A. Gout. Lancet 2021 — https://doi.org/10.1016/S0140-6736(21)00569-9 - Choi HK et al. Purine-Rich Foods, Dairy and Protein Intake, and the Risk of Gout in Men. N Engl J Med 2004 — https://doi.org/10.1056/NEJMoa035700 - Choi HK, Curhan G. Soft drinks, fructose consumption, and the risk of gout in men: prospective cohort study. BMJ 2008 — https://doi.org/10.1136/bmj.39449.819271.BE - Richette P et al. 2016 updated EULAR evidence-based recommendations for the management of gout. Ann Rheum Dis 2017 — https://doi.org/10.1136/annrheumdis-2016-209707 # Pharmacogenomics > How CYP2C19, CYP2D6, CYP2C9, CYP1A2, NAT2 and HLA variants change the way medicines work, with CPIC guidance per phenotype. Index: https://orviva.ai/learn/pharmacogenomics. Each entry below links to its page. ## CYP1A2 (Cytochrome P450 1A2) > CYP1A2 is the enzyme that clears caffeine, and it also metabolises clozapine, olanzapine, theophylline and melatonin. Unlike most pharmacogenes, its activity is driven at least as much by environment as by genotype: smoking and cruciferous vegetables induce it, oral contraceptives and fluvoxamine inhibit it. The *1F variant makes the enzyme more inducible, which is why the same coffee affects a smoking *1F/*1F carrier and a non-smoking *1A/*1A carrier so differently. Source: https://orviva.ai/learn/pharmacogenomics/cyp1a2 ### Phenotypes - **Ultrarapid Metabolizer** (activity score ≥ 2.5 (*1F/*1F)): Highly inducible enzyme: fast caffeine clearance, especially in smokers. - **Normal Metabolizer** (activity score 1.5 – 2): Typical clearance. - **Intermediate Metabolizer** (activity score 1): Reduced clearance; caffeine and clozapine linger longer. - **Poor Metabolizer** (activity score ≤ 0.5): Markedly reduced clearance. ### Drugs - Caffeine — https://orviva.ai/learn/pharmacogenomics/cyp1a2/caffeine - Clozapine — https://orviva.ai/learn/pharmacogenomics/cyp1a2/clozapine - Theophylline — https://orviva.ai/learn/pharmacogenomics/cyp1a2/theophylline - Melatonin — https://orviva.ai/learn/pharmacogenomics/cyp1a2/melatonin ### Consumer DNA chips The inducibility variant *1F (rs762551) is on every major consumer chip. Because CYP1A2 activity depends heavily on smoking and diet, genotype alone predicts caffeine clearance less well than for other pharmacogenes. ## CYP2C19 (Cytochrome P450 2C19) > CYP2C19 is a liver enzyme that activates or clears several widely used medicines, including clopidogrel, most proton-pump inhibitors, escitalopram and voriconazole. Two common no-function alleles (*2 and *3) and one increased-function allele (*17) make CYP2C19 activity vary widely between people, and between populations: roughly 2-5% of Europeans but 13-15% of East Asians are poor metabolisers. CPIC publishes prescribing guidance keyed to the resulting phenotype. Source: https://orviva.ai/learn/pharmacogenomics/cyp2c19 ### Phenotypes - **Ultrarapid Metabolizer** (activity score ≥ 3 (*17/*17)): Two increased-function alleles: faster than normal clearance of CYP2C19 substrates. - **Rapid Metabolizer** (activity score 2.5 or 1.5 (one *17 allele)): One increased-function allele: somewhat faster clearance. - **Normal Metabolizer** (activity score 2 (*1/*1)): Two normal-function alleles: the reference against which drug doses are designed. - **Intermediate Metabolizer** (activity score 0.5 – 1): One no-function or decreased-function allele: reduced clearance, reduced activation of prodrugs. - **Poor Metabolizer** (activity score 0 (*2/*2, *2/*3, *3/*3)): Two no-function alleles: little or no enzyme activity. ### Drugs - Clopidogrel — https://orviva.ai/learn/pharmacogenomics/cyp2c19/clopidogrel - Proton Pump Inhibitors (PPIs) — https://orviva.ai/learn/pharmacogenomics/cyp2c19/proton-pump-inhibitors - Escitalopram/Citalopram — https://orviva.ai/learn/pharmacogenomics/cyp2c19/escitalopram - Voriconazole — https://orviva.ai/learn/pharmacogenomics/cyp2c19/voriconazole ### Consumer DNA chips 23andMe and AncestryDNA chips genotype the defining variants of *2, *3 and *17 directly (rs4244285, rs4986893, rs12248560), so CYP2C19 is one of the better-covered pharmacogenes on consumer data. Rare alleles are not tested, and a call is only as good as the chip's read at each position. ## CYP2C9 (Cytochrome P450 2C9) > CYP2C9 clears warfarin (the active S-enantiomer), phenytoin, celecoxib and most other NSAIDs, and several sulfonylureas. The two common decreased-function alleles, *2 and *3, slow clearance enough that carriers need lower warfarin doses and are more prone to bleeding during the first weeks of therapy; together with VKORC1 they explain a large share of the dose variation between patients. Source: https://orviva.ai/learn/pharmacogenomics/cyp2c9 ### Phenotypes - **Normal Metabolizer** (activity score ≥ 1.5 (*1/*1)): Full enzyme activity. - **Intermediate Metabolizer** (activity score 1 (one *2 or *3)): Reduced clearance of CYP2C9 substrates. - **Poor Metabolizer** (activity score ≤ 0.5 (*2/*3, *3/*3 and similar)): Markedly reduced clearance. ### Drugs - Warfarin — https://orviva.ai/learn/pharmacogenomics/cyp2c9/warfarin - Phenytoin — https://orviva.ai/learn/pharmacogenomics/cyp2c9/phenytoin - Celecoxib — https://orviva.ai/learn/pharmacogenomics/cyp2c9/celecoxib - Flurbiprofen/NSAIDs — https://orviva.ai/learn/pharmacogenomics/cyp2c9/flurbiprofen ### Consumer DNA chips The *2 (rs1799853) and *3 (rs1057910) variants are on the major consumer chips, so the common CYP2C9 phenotypes are called with good confidence. Rarer alleles such as *5, *6, *8 and *11, which matter most in people of African ancestry, are usually not genotyped. ## CYP2D6 (Cytochrome P450 2D6) > CYP2D6 metabolises around a quarter of all prescribed drugs, among them codeine, tramadol, tamoxifen, many antidepressants and antipsychotics, and some beta-blockers. It is the most polymorphic of the drug-metabolising enzymes: more than 100 star alleles are described, whole-gene deletions and duplications are common, and activity ranges from none to several times normal. Codeine is the classic example — the enzyme turns it into morphine, so poor metabolisers get little pain relief and ultrarapid metabolisers can be harmed by a standard dose. Source: https://orviva.ai/learn/pharmacogenomics/cyp2d6 ### Phenotypes - **Ultrarapid Metabolizer** (activity score > 2.25): Gene duplication or multiple increased-function alleles: unusually fast metabolism. - **Normal Metabolizer** (activity score 1.25 – 2.25): The reference range of enzyme activity. - **Intermediate Metabolizer** (activity score 0.25 – 1): Reduced enzyme activity. - **Poor Metabolizer** (activity score 0): No functional enzyme. ### Drugs - Codeine — https://orviva.ai/learn/pharmacogenomics/cyp2d6/codeine - Tramadol — https://orviva.ai/learn/pharmacogenomics/cyp2d6/tramadol - Tamoxifen — https://orviva.ai/learn/pharmacogenomics/cyp2d6/tamoxifen - Atomoxetine — https://orviva.ai/learn/pharmacogenomics/cyp2d6/atomoxetine - Ondansetron — https://orviva.ai/learn/pharmacogenomics/cyp2d6/ondansetron ### Consumer DNA chips Consumer DNA chips read single-nucleotide changes but cannot see gene deletions (*5) or duplications (*1xN, *2xN), which are exactly what defines many poor and ultrarapid metabolisers. A CYP2D6 call from chip data is therefore a lower-confidence estimate than for CYP2C19 or CYP2C9, and Orviva reports it with that caveat. ## NAT2 (N-acetyltransferase 2) > NAT2 inactivates drugs by acetylation. Its common haplotypes split people into rapid, intermediate and slow acetylators, and the split is strongly population-dependent: about half of Europeans and South Asians are slow acetylators, against roughly one in ten East Asians. Slow acetylators clear isoniazid, hydralazine, sulfasalazine, dapsone and procainamide more slowly and are more prone to their toxicities, from isoniazid liver injury to hydralazine-induced lupus. Source: https://orviva.ai/learn/pharmacogenomics/nat2 ### Phenotypes - **Rapid Acetylator** (two rapid alleles (e.g. *4/*4)): Fast inactivation: lower drug exposure at a standard dose. - **Intermediate Acetylator** (one rapid and one slow allele): Intermediate clearance. - **Slow Acetylator** (two slow alleles (e.g. *5B/*6A)): Slow inactivation: higher exposure and higher risk of dose-related toxicity. ### Drugs - Isoniazid — https://orviva.ai/learn/pharmacogenomics/nat2/isoniazid - Hydralazine — https://orviva.ai/learn/pharmacogenomics/nat2/hydralazine - Sulfasalazine — https://orviva.ai/learn/pharmacogenomics/nat2/sulfasalazine - Procainamide — https://orviva.ai/learn/pharmacogenomics/nat2/procainamide - Dapsone — https://orviva.ai/learn/pharmacogenomics/nat2/dapsone - Caffeine — https://orviva.ai/learn/pharmacogenomics/nat2/caffeine ### Consumer DNA chips NAT2 haplotypes are inferred from a panel of seven coding SNPs; consumer chips usually carry the four that define the common slow alleles (rs1801279, rs1801280, rs1799930, rs1799931). Phase — which variants sit on the same chromosome — is not observed directly, so the diplotype is a statistical inference. ## Clopidogrel and CYP2C19 > Clopidogrel is a prodrug: CYP2C19 converts it into the active metabolite that blocks platelets. People with reduced CYP2C19 activity make less of it and have higher rates of stent thrombosis and recurrent heart attack on standard clopidogrel. Source: https://orviva.ai/learn/pharmacogenomics/cyp2c19/clopidogrel (curated from CPIC Guideline (2022), CPIC level A; guidance is written for prescribers) - **Ultrarapid Metabolizer**: Standard dose clopidogrel expected to be effective. Normal to increased platelet inhibition. - **Rapid Metabolizer**: Standard dose clopidogrel expected to be effective. - **Normal Metabolizer**: Standard dose clopidogrel expected to be effective. - **Intermediate Metabolizer**: Consider alternative antiplatelet therapy (e.g., prasugrel, ticagrelor) due to reduced clopidogrel activation. - **Poor Metabolizer**: Use alternative antiplatelet therapy (prasugrel or ticagrelor). Clopidogrel is expected to be ineffective. ## Proton Pump Inhibitors (PPIs) and CYP2C19 > Omeprazole, lansoprazole, pantoprazole and related PPIs are cleared mainly by CYP2C19. Rapid and ultrarapid metabolisers clear them faster and may get less acid suppression; poor metabolisers have higher exposure. Source: https://orviva.ai/learn/pharmacogenomics/cyp2c19/proton-pump-inhibitors (curated from CPIC Guideline (2020), CPIC level A; guidance is written for prescribers) - **Ultrarapid Metabolizer**: Increased PPI metabolism. May need higher dose or more frequent dosing for H. pylori eradication. - **Rapid Metabolizer**: May need dose increase for H. pylori eradication therapy. - **Normal Metabolizer**: Standard PPI dosing. - **Intermediate Metabolizer**: Standard PPI dosing. May have enhanced acid suppression. - **Poor Metabolizer**: Consider reduced PPI dose for chronic use. Enhanced acid suppression expected. ## Escitalopram/Citalopram and CYP2C19 > Escitalopram and citalopram are cleared by CYP2C19. Poor metabolisers reach higher blood levels, with more side effects including QT prolongation; ultrarapid metabolisers may have subtherapeutic levels. Source: https://orviva.ai/learn/pharmacogenomics/cyp2c19/escitalopram (curated from CPIC Guideline (2015), CPIC level A; guidance is written for prescribers) - **Ultrarapid Metabolizer**: Consider alternative SSRI not metabolized by CYP2C19, or increase dose with therapeutic drug monitoring. - **Normal Metabolizer**: Standard dosing. - **Intermediate Metabolizer**: Standard dosing. - **Poor Metabolizer**: Consider 50% dose reduction or alternative SSRI (e.g., sertraline, fluoxetine). ## Voriconazole and CYP2C19 > Voriconazole is largely cleared by CYP2C19 and has a narrow therapeutic window. Ultrarapid metabolisers risk treatment failure from low exposure; poor metabolisers risk toxicity from high exposure. Source: https://orviva.ai/learn/pharmacogenomics/cyp2c19/voriconazole (curated from CPIC Guideline (2016), CPIC level A; guidance is written for prescribers) - **Ultrarapid Metabolizer**: Use alternative antifungal agent not metabolized by CYP2C19. If voriconazole is used, monitor trough levels closely. - **Normal Metabolizer**: Standard dosing with therapeutic drug monitoring. - **Intermediate Metabolizer**: Standard dosing with therapeutic drug monitoring. - **Poor Metabolizer**: Consider dose reduction or alternative antifungal. Higher risk of toxicity. ## Codeine and CYP2D6 > Codeine only relieves pain after CYP2D6 turns it into morphine. Poor metabolisers get little effect; ultrarapid metabolisers can produce dangerous morphine levels from a standard dose, which is why codeine is contraindicated in children after tonsillectomy. Source: https://orviva.ai/learn/pharmacogenomics/cyp2d6/codeine (curated from CPIC Guideline (2019), CPIC level A; guidance is written for prescribers) - **Ultrarapid Metabolizer**: AVOID codeine. Rapid conversion to morphine increases risk of toxicity and respiratory depression. Use non-codeine analgesic. - **Normal Metabolizer**: Standard codeine dosing. Normal conversion to morphine. - **Intermediate Metabolizer**: Use codeine with caution at reduced dose, or consider alternative analgesic. - **Poor Metabolizer**: AVOID codeine. Insufficient conversion to morphine; drug will be ineffective. Use alternative analgesic. ## Tramadol and CYP2D6 > Tramadol's main analgesic effect comes from its CYP2D6 metabolite O-desmethyltramadol. As with codeine, poor metabolisers get reduced analgesia and ultrarapid metabolisers risk toxicity. Source: https://orviva.ai/learn/pharmacogenomics/cyp2d6/tramadol (curated from CPIC Guideline (2019), CPIC level A; guidance is written for prescribers) - **Ultrarapid Metabolizer**: AVOID tramadol. Increased risk of toxicity due to rapid conversion to active metabolite. - **Normal Metabolizer**: Standard tramadol dosing. - **Intermediate Metabolizer**: Use with caution. May have reduced efficacy. - **Poor Metabolizer**: AVOID tramadol. Insufficient conversion to active metabolite; drug will be ineffective. ## Tamoxifen and CYP2D6 > Tamoxifen is activated by CYP2D6 into endoxifen, its most potent anti-oestrogen metabolite. Poor metabolisers have lower endoxifen levels, and several studies associate this with a higher breast-cancer recurrence rate. Source: https://orviva.ai/learn/pharmacogenomics/cyp2d6/tamoxifen (curated from CPIC Guideline (2018), CPIC level A; guidance is written for prescribers) - **Ultrarapid Metabolizer**: Standard tamoxifen dosing. Normal to increased conversion to endoxifen. - **Normal Metabolizer**: Standard tamoxifen dosing. - **Intermediate Metabolizer**: Consider higher dose tamoxifen (40mg) or alternative (aromatase inhibitor in postmenopausal women). - **Poor Metabolizer**: Avoid tamoxifen. Use aromatase inhibitor (postmenopausal) or alternative endocrine therapy. Insufficient conversion to endoxifen. ## Atomoxetine and CYP2D6 > Atomoxetine, an ADHD medicine, is cleared by CYP2D6. Poor metabolisers have several-fold higher exposure, with more cardiovascular and other side effects, and typically need lower doses. Source: https://orviva.ai/learn/pharmacogenomics/cyp2d6/atomoxetine (curated from CPIC Guideline (2023), CPIC level A; guidance is written for prescribers) - **Ultrarapid Metabolizer**: May need higher dose for therapeutic effect. - **Normal Metabolizer**: Standard dosing. - **Intermediate Metabolizer**: Standard initial dosing; monitor for side effects. - **Poor Metabolizer**: Start at lower dose. Higher risk of side effects due to elevated drug levels. ## Ondansetron and CYP2D6 > Ondansetron is inactivated by CYP2D6. Ultrarapid metabolisers clear it quickly and have a higher rate of breakthrough nausea and vomiting, so an alternative antiemetic is suggested. Source: https://orviva.ai/learn/pharmacogenomics/cyp2d6/ondansetron (curated from CPIC Guideline (2021), CPIC level B; guidance is written for prescribers) - **Ultrarapid Metabolizer**: May have reduced antiemetic effect. Consider alternative (e.g., granisetron). - **Normal Metabolizer**: Standard dosing. - **Intermediate Metabolizer**: Standard dosing. - **Poor Metabolizer**: Standard dosing. May have slightly increased exposure but generally well tolerated. ## Warfarin and CYP2C9 > CYP2C9 clears S-warfarin, the more potent enantiomer. Carriers of *2 or *3 clear it slowly, need lower maintenance doses, take longer to reach a stable INR and bleed more often during initiation. VKORC1 genotype is the other half of the picture. Source: https://orviva.ai/learn/pharmacogenomics/cyp2c9/warfarin (curated from CPIC Guideline (2017), CPIC level A; guidance is written for prescribers) - **Normal Metabolizer**: Standard warfarin dosing algorithm. Use clinical factors + genotype-guided dosing. - **Intermediate Metabolizer**: Reduce initial warfarin dose by 20-40%. More frequent INR monitoring recommended. - **Poor Metabolizer**: Reduce initial warfarin dose by 40-60%. High risk of over-anticoagulation and bleeding. Consider alternative anticoagulant (DOAC). ## Phenytoin and CYP2C9 > Phenytoin is cleared by CYP2C9 and has a narrow therapeutic index. Reduced-function carriers reach toxic concentrations at standard doses; HLA-B*15:02 separately predicts severe skin reactions. Source: https://orviva.ai/learn/pharmacogenomics/cyp2c9/phenytoin (curated from CPIC Guideline (2014), CPIC level A; guidance is written for prescribers) - **Normal Metabolizer**: Standard phenytoin dosing. - **Intermediate Metabolizer**: Reduce dose by 25%. Therapeutic drug monitoring recommended. - **Poor Metabolizer**: Reduce dose by 50% or consider alternative anticonvulsant. High risk of toxicity. ## Celecoxib and CYP2C9 > Celecoxib is almost entirely cleared by CYP2C9. Poor metabolisers have a much longer half-life and higher exposure, with more gastrointestinal, cardiovascular and renal risk. Source: https://orviva.ai/learn/pharmacogenomics/cyp2c9/celecoxib (curated from CPIC Guideline (2020), CPIC level B; guidance is written for prescribers) - **Normal Metabolizer**: Standard celecoxib dosing. - **Intermediate Metabolizer**: Consider reduced dose. Monitor for GI and cardiovascular side effects. - **Poor Metabolizer**: Use lowest effective dose or consider alternative NSAID. Increased drug exposure. ## Flurbiprofen/NSAIDs and CYP2C9 > Flurbiprofen, ibuprofen, meloxicam, piroxicam and other NSAIDs are CYP2C9 substrates. Reduced clearance raises exposure and the risk of bleeding and kidney injury, particularly for the longer-acting drugs. Source: https://orviva.ai/learn/pharmacogenomics/cyp2c9/flurbiprofen (curated from CPIC Guideline (2020), CPIC level B; guidance is written for prescribers) - **Normal Metabolizer**: Standard NSAID dosing. - **Intermediate Metabolizer**: Use with caution. May have increased exposure. - **Poor Metabolizer**: Consider reduced dose or alternative analgesic. ## Caffeine and CYP1A2 > CYP1A2 clears about 95% of caffeine. Fast, inducible metabolisers feel less effect and clear it before bedtime; slow metabolisers keep it in circulation for many hours, and some studies link slow metabolism plus heavy coffee to higher cardiovascular risk. Source: https://orviva.ai/learn/pharmacogenomics/cyp1a2/caffeine (curated from PharmGKB / PMID:16522833, CPIC level B; guidance is written for prescribers) - **Ultrarapid Metabolizer**: Rapid caffeine metabolism. Higher caffeine tolerance, but high intake may still increase cardiovascular risk in some individuals. - **Normal Metabolizer**: Normal caffeine metabolism. Moderate intake (up to 400mg/day) generally well tolerated. - **Intermediate Metabolizer**: Slower caffeine metabolism. Consider limiting intake to 200mg/day. May experience prolonged stimulant effects. - **Poor Metabolizer**: Very slow caffeine metabolism. Limit caffeine intake significantly (<100mg/day). Increased risk of insomnia, anxiety, and cardiovascular effects. ## Clozapine and CYP1A2 > Clozapine levels depend on CYP1A2 activity, and on smoking, which induces the enzyme. Starting or stopping smoking can move clozapine concentrations enough to cause relapse or toxicity. Source: https://orviva.ai/learn/pharmacogenomics/cyp1a2/clozapine (curated from DPWG / PMID:15128049, CPIC level B; guidance is written for prescribers) - **Ultrarapid Metabolizer**: May need higher clozapine dose. Monitor therapeutic drug levels closely. - **Normal Metabolizer**: Standard clozapine dosing with therapeutic drug monitoring. - **Intermediate Metabolizer**: Consider reduced dose. Monitor for elevated drug levels and side effects. - **Poor Metabolizer**: Significant dose reduction required. High risk of toxicity. Frequent therapeutic drug monitoring essential. ## Theophylline and CYP1A2 > Theophylline has a narrow therapeutic window and is cleared by CYP1A2. Slow metabolism, enzyme inhibitors or stopping smoking can push levels into the toxic range. Source: https://orviva.ai/learn/pharmacogenomics/cyp1a2/theophylline (curated from DPWG / PMID:17301689, CPIC level B; guidance is written for prescribers) - **Ultrarapid Metabolizer**: May need higher theophylline dose. Monitor serum levels. - **Normal Metabolizer**: Standard theophylline dosing with serum level monitoring. - **Intermediate Metabolizer**: Consider reduced dose. Monitor serum levels more frequently. - **Poor Metabolizer**: Dose reduction required. Risk of theophylline toxicity (nausea, tachycardia, seizures). ## Melatonin and CYP1A2 > Exogenous melatonin is cleared by CYP1A2. Slow metabolisers have higher and longer exposure from the same dose, which shows up as next-day drowsiness. Source: https://orviva.ai/learn/pharmacogenomics/cyp1a2/melatonin (curated from PMID:16522833, CPIC level C; guidance is written for prescribers) - **Ultrarapid Metabolizer**: Rapid melatonin clearance. May need higher dose or extended-release formulation for sleep support. - **Normal Metabolizer**: Standard melatonin dosing (0.5-3mg). - **Intermediate Metabolizer**: Lower melatonin dose may be sufficient. Slower clearance extends duration. - **Poor Metabolizer**: Very low melatonin dose recommended (0.3-0.5mg). Slow clearance may cause morning grogginess. ## Isoniazid and NAT2 > Isoniazid is inactivated by NAT2 acetylation. Slow acetylators accumulate more of the hepatotoxic intermediate and have a several-fold higher rate of drug-induced liver injury. Source: https://orviva.ai/learn/pharmacogenomics/nat2/isoniazid (curated from CPIC 2025 (PMID: 40974042), CPIC level A; guidance is written for prescribers) - **Rapid Acetylator**: Standard dose. Monitor for treatment efficacy as rapid acetylators may have lower drug exposure. Consider therapeutic drug monitoring if poor response. - **Intermediate Acetylator**: Standard dose. Standard monitoring for hepatotoxicity (ALT/AST at baseline and periodically). - **Slow Acetylator**: Consider reduced dose or enhanced hepatotoxicity monitoring. Slow acetylators have 4-6× higher risk of isoniazid-induced liver injury. Monitor ALT/AST closely, especially in first 2 months. ## Hydralazine and NAT2 > Hydralazine is cleared by NAT2. Slow acetylators have higher exposure and a much higher rate of drug-induced lupus with prolonged use. Source: https://orviva.ai/learn/pharmacogenomics/nat2/hydralazine (curated from CPIC 2025 (PMID: 40974042), CPIC level A; guidance is written for prescribers) - **Rapid Acetylator**: Standard dose titration. May require higher doses for blood pressure control due to faster drug metabolism. - **Intermediate Acetylator**: Standard dose titration with routine monitoring. - **Slow Acetylator**: Use with caution. Slow acetylators have significantly higher risk of drug-induced lupus erythematosus (DILE), especially with prolonged use or high doses. Consider alternative antihypertensives if possible. If used, monitor for lupus symptoms (joint pain, rash, serositis) and check ANA periodically. ## Sulfasalazine and NAT2 > The sulfapyridine released from sulfasalazine is cleared by NAT2. Slow acetylators have more dose-related side effects such as nausea, headache and haemolysis. Source: https://orviva.ai/learn/pharmacogenomics/nat2/sulfasalazine (curated from PharmGKB, CPIC, CPIC level B; guidance is written for prescribers) - **Rapid Acetylator**: Standard dosing. May have reduced efficacy due to faster metabolism of the sulfapyridine moiety. - **Intermediate Acetylator**: Standard dosing with routine monitoring for adverse effects. - **Slow Acetylator**: Higher risk of dose-dependent adverse effects (nausea, headache, rash, hematologic toxicity). Consider starting at lower dose and titrating slowly. Monitor CBC regularly. ## Procainamide and NAT2 > Procainamide is acetylated by NAT2. Slow acetylators develop procainamide-induced lupus more often and sooner. Source: https://orviva.ai/learn/pharmacogenomics/nat2/procainamide (curated from PharmGKB, CPIC level B; guidance is written for prescribers) - **Rapid Acetylator**: Standard dosing. Rapid conversion to NAPA (active metabolite) may affect efficacy profile. - **Intermediate Acetylator**: Standard dosing with routine monitoring. - **Slow Acetylator**: Higher risk of drug-induced lupus with chronic use. Monitor for lupus symptoms. Consider alternative antiarrhythmics for long-term therapy. ## Dapsone and NAT2 > Dapsone is partly cleared by NAT2. Slow acetylators are more prone to its haematological toxicity. Source: https://orviva.ai/learn/pharmacogenomics/nat2/dapsone (curated from PharmGKB, CPIC level C; guidance is written for prescribers) - **Rapid Acetylator**: Standard dosing. - **Intermediate Acetylator**: Standard dosing with monitoring. - **Slow Acetylator**: Higher risk of dose-dependent hemolytic anemia and methemoglobinemia. Monitor hemoglobin and methemoglobin levels. Consider lower starting dose. ## Caffeine and NAT2 > Caffeine is the standard probe drug for NAT2 phenotyping: the ratio of its acetylated metabolites in urine reveals acetylator status. Genotype and phenotype agree in most people. Source: https://orviva.ai/learn/pharmacogenomics/nat2/caffeine (curated from Research literature, CPIC level D; guidance is written for prescribers) - **Rapid Acetylator**: Normal caffeine metabolism. Less likely to experience prolonged stimulant effects. - **Intermediate Acetylator**: Moderate caffeine sensitivity. Standard intake generally well-tolerated. - **Slow Acetylator**: Slower caffeine metabolism may lead to prolonged stimulant effects, sleep disruption, and anxiety with moderate intake. Consider limiting caffeine consumption, especially in the afternoon/evening. ## HLA-B*57:01 Source: https://orviva.ai/learn/pharmacogenomics/hla-b-57-01 (inferred from tag SNP rs2395029) - **Abacavir Hypersensitivity Syndrome** (high risk): HLA-B*57:01 carriers should NOT be prescribed abacavir. Use an alternative antiretroviral agent. FDA and CPIC recommend HLA-B*57:01 testing before initiating abacavir therapy. — CPIC Guideline for Abacavir and HLA-B (2014, updated 2024) ## HLA-B*58:01 Source: https://orviva.ai/learn/pharmacogenomics/hla-b-58-01 (inferred from tag SNP rs9263726) - **Allopurinol Hypersensitivity (SJS/TEN/DRESS)** (high risk): HLA-B*58:01 carriers should NOT be prescribed allopurinol. Use febuxostat or other urate-lowering therapy instead. FDA label recommends HLA-B*58:01 testing before initiating allopurinol, especially in patients of Southeast Asian, African American, or Korean descent. — CPIC Guideline for Allopurinol and HLA-B (2015, updated 2024) ## HLA-A*31:01 Source: https://orviva.ai/learn/pharmacogenomics/hla-a-31-01 (inferred from tag SNP rs1061235) - **Carbamazepine Hypersensitivity (DRESS/maculopapular exanthema)** (high risk): HLA-A*31:01 carriers have increased risk of carbamazepine-induced DRESS and maculopapular exanthema. Consider alternative anticonvulsants (e.g., lamotrigine, levetiracetam). CPIC recommends HLA-A*31:01 testing before initiating carbamazepine in populations where this allele is common. — CPIC Guideline for Carbamazepine and HLA-A/HLA-B (2018, updated 2024) - **Oxcarbazepine Hypersensitivity** (moderate risk): HLA-A*31:01 carriers may also have increased risk with oxcarbazepine. Monitor closely if prescribed. — CPIC Guideline for Carbamazepine and HLA-A/HLA-B (2018) ## HLA-DQ2.5 Source: https://orviva.ai/learn/pharmacogenomics/hla-dq2.5 (inferred from tag SNP rs2187668) - **Celiac Disease Susceptibility** (high risk): HLA-DQ2.5 is present in ~90-95% of celiac disease patients. However, ~30% of the general population also carries this allele. Positive result indicates genetic susceptibility but NOT diagnosis. If symptoms are present (chronic diarrhea, bloating, malabsorption), consider serological testing (tTG-IgA). — Multiple GWAS studies; ESPGHAN Guidelines - **Type 1 Diabetes Susceptibility** (moderate risk): HLA-DQ2.5 contributes to T1D risk, especially in combination with HLA-DQ8. This is one of many genetic and environmental factors involved. — T1DGC GWAS; Nature Genetics 2007 ## HLA-DQ8 Source: https://orviva.ai/learn/pharmacogenomics/hla-dq8 (inferred from tag SNP rs7454108) - **Celiac Disease Susceptibility** (moderate risk): HLA-DQ8 is found in ~5-10% of celiac disease patients who are DQ2.5-negative. Combined DQ2.5+DQ8 testing captures >99% of celiac patients. Absence of both DQ2.5 and DQ8 essentially excludes celiac disease (NPV >99%). — ESPGHAN Guidelines; Multiple GWAS studies - **Type 1 Diabetes Susceptibility** (moderate risk): HLA-DQ8 is one of the strongest genetic risk factors for T1D, especially when combined with HLA-DR4. — T1DGC; Nature Genetics 2007 ## HLA-DQB1*06:02 Source: https://orviva.ai/learn/pharmacogenomics/hla-dqb1-06-02 (inferred from tag SNP rs3135388) - **Narcolepsy Type 1 Susceptibility** (high risk): HLA-DQB1*06:02 is present in >98% of narcolepsy type 1 patients but also in ~25% of the general population. This allele is necessary but not sufficient for narcolepsy. If experiencing excessive daytime sleepiness or cataplexy, consult a sleep specialist. — Mignot et al., Nature Genetics; International Narcolepsy Consortium - **Multiple Sclerosis Susceptibility** (moderate risk): HLA-DRB1*15:01 (tagged by the same SNP rs3135388) is the strongest genetic risk factor for MS. This represents one of many genetic and environmental factors. — IMSGC GWAS; Nature 2011 ## HLA-B*27 Source: https://orviva.ai/learn/pharmacogenomics/hla-b-27 (inferred from tag SNP rs4349859) - **Ankylosing Spondylitis Susceptibility** (high risk): HLA-B27 is present in >90% of ankylosing spondylitis (AS) patients. However, only ~5% of HLA-B27 carriers develop AS. If experiencing chronic lower back pain (especially inflammatory pattern: worse at rest, improves with exercise, morning stiffness >30 min), consider rheumatology evaluation. — IGAS Consortium; Nature Genetics 2010 - **Reactive Arthritis Susceptibility** (moderate risk): HLA-B27 carriers have increased susceptibility to reactive arthritis following certain infections (Chlamydia, Salmonella, Shigella, Yersinia). — Rheumatology literature; Brewerton et al. 1973 - **Anterior Uveitis Susceptibility** (moderate risk): HLA-B27 is associated with acute anterior uveitis. If experiencing sudden eye pain, redness, or light sensitivity, seek ophthalmologic evaluation promptly. — Ophthalmology literature ## HLA-DRB1*04 Source: https://orviva.ai/learn/pharmacogenomics/hla-drb1-04 (inferred from tag SNP rs660895) - **Rheumatoid Arthritis Susceptibility** (moderate risk): HLA-DRB1*04 (shared epitope) is a major genetic risk factor for rheumatoid arthritis, especially anti-CCP positive RA. If experiencing symmetric joint pain, morning stiffness, or joint swelling, consult a rheumatologist. Early diagnosis and treatment significantly improve outcomes. — WTCCC; Raychaudhuri et al. Nature Genetics 2012 ## HLA-C*06:02 Source: https://orviva.ai/learn/pharmacogenomics/hla-c-06-02 (inferred from tag SNP rs10484554) - **Psoriasis Susceptibility** (high risk): HLA-C*06:02 is the strongest genetic risk factor for psoriasis (especially type I/early-onset psoriasis). Carriers have ~10-fold increased risk. If skin symptoms develop (red, scaly patches), early dermatological evaluation can improve management. — International Psoriasis Genetics Consortium; Nature Genetics 2009 # DNA variants > Genotype-by-genotype explanations of the variants on consumer DNA chips, with population frequencies and sources. Index: https://orviva.ai/learn/snps. Each entry below links to its page. ## rs10001365 (TTC29) Source: https://orviva.ai/learn/snps/rs10001365 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.013). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.011). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs1000778 (FADS3) Source: https://orviva.ai/learn/snps/rs1000778 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Fatty acid(20:4)_[M-H]1- levels (OR=0.12). [GWAS Catalog] - **GG** (typical): G allele associated with increased High density lipoprotein cholesterol levels (β=0.035). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019510 ## rs10007915 (RNU6-351P - TET2) Source: https://orviva.ai/learn/snps/rs10007915 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with marginally increased risk of Prostate cancer (OR=1.12). [GWAS Catalog] - **GG** (increased): G allele associated with increased Hip index (β=0.019). [GWAS Catalog] References: PMID:37945903; GWAS Catalog; GCST90274713 ## rs10019888 (SMIM20 - LINC02357) Source: https://orviva.ai/learn/snps/rs10019888 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Waist-hip ratio (β=0.021). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triglyceride to phosphoglyceride ratio (β=0.031). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454483 ## rs10020067 (KLHL8 - MIR5705) Source: https://orviva.ai/learn/snps/rs10020067 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **CC** (typical): C allele associated with increased Triglyceride levels in medium HDL (β=0.035). [GWAS Catalog] - **AA** (typical): A allele associated with increased Polyunsaturated fatty acids to total fatty acids percentage (UKB data field 2... (β=0.031). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269550 ## rs10027275 (ARHGAP10) Source: https://orviva.ai/learn/snps/rs10027275 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased SERPINA4 protein levels (β=0.042). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs1004317 (AQP1) Source: https://orviva.ai/learn/snps/rs1004317 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Kidney stone disease (OR=1.07). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs10045403 (ERAP1 - ERAP2) Source: https://orviva.ai/learn/snps/rs10045403 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (slightly elevated): A allele associated with slightly increased risk of Ankylosing spondylitis (OR=1.20). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Frontal fibrosing alopecia (OR=1.30). [GWAS Catalog] References: PMID:23749187; GWAS Catalog; GCST005529 ## rs10048146 (FOXL1 - LINC02188) Source: https://orviva.ai/learn/snps/rs10048146 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with increased Femoral neck bone mineral density (β=0.050). [GWAS Catalog] References: PMID:22504420; GWAS Catalog; GCST007691 ## rs1005502 (LINC00536) Source: https://orviva.ai/learn/snps/rs1005502 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.012). [GWAS Catalog] - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.028). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs10056543 (SLC25A5P9 - BIN2P2) Source: https://orviva.ai/learn/snps/rs10056543 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Low-density lipoprotein levels (MTAG) (β=0.009). [GWAS Catalog] - **CC** (typical): C allele associated with increased Linoleic acid percentage of total fatty acids (β=0.019). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179148 ## rs10060615 (SLC22A5) Source: https://orviva.ai/learn/snps/rs10060615 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with increased Estimated degree of unsaturation (β=0.032). [GWAS Catalog] - **CC** (typical): C allele associated with increased LDLRAP1 protein levels (β=0.042). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90469749 ## rs1006207 (MACROD1, FLRT1) Source: https://orviva.ai/learn/snps/rs1006207 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Urate levels (β=0.047). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.019). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs10069690 (TERT) Source: https://orviva.ai/learn/snps/rs10069690 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (elevated): T allele associated with moderately increased risk of Glioblastoma (OR=1.61). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs1007934 (ZFYVE1) Source: https://orviva.ai/learn/snps/rs1007934 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Body mass index (β=0.012). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Kidney cancer (OR=0.94). [GWAS Catalog] References: PMID:38671320; GWAS Catalog; GCST90320054 ## rs10086016 (KCNU1 - SMARCE1P4) Source: https://orviva.ai/learn/snps/rs10086016 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Triglycerides to Total Lipids in Very Large VLDL percentage (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs10092649 (TOX) Source: https://orviva.ai/learn/snps/rs10092649 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] - **AA** (increased): A allele associated with increased Insomnia (β=0.005). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs1009360 (LINC02245, LINC02576) Source: https://orviva.ai/learn/snps/rs1009360 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.017). [GWAS Catalog] - **CC** (typical): C allele associated with increased Polyunsaturated fatty acids to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501231 ## rs10095737 (PINX1, PINX1) Source: https://orviva.ai/learn/snps/rs10095737 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased triglyceride (minimum, inv-norm transformed) (β=0.042). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist circumference adjusted for body mass index (β=0.022). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020029 ## rs10102352 (PPP1R3B-DT) Source: https://orviva.ai/learn/snps/rs10102352 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Total lipids in IDL (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Degree of unsaturation (β=0.029). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092994 ## rs10107182 (UBXN2B - CYP7A1) Source: https://orviva.ai/learn/snps/rs10107182 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased total cholesterol (mean, inv-norm transformed) (β=0.041). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.013). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480715 ## rs10109025 (XKR6) Source: https://orviva.ai/learn/snps/rs10109025 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.018). [GWAS Catalog] - **CC** (typical): C allele associated with increased Endometriosis or asthma (pleiotropy) (β=0.040). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012226 ## rs1011731 (DNM3, PIGC) Source: https://orviva.ai/learn/snps/rs1011731 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Waist-hip ratio (β=0.030). [GWAS Catalog] - **AA** (typical): A allele associated with increased High density lipoprotein cholesterol levels (β=0.014). [GWAS Catalog] References: PMID:29083408; GWAS Catalog; GCST009151 ## rs10119 (TOMM40) Source: https://orviva.ai/learn/snps/rs10119 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Vascular dementia (OR=0.33). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Cerebral amyloid deposition (PET imaging) (OR=0.15). [GWAS Catalog] References: PMID:30361487; GWAS Catalog; GCST006904 ## rs10137475 (ARID4A) Source: https://orviva.ai/learn/snps/rs10137475 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.025). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs10149470 (RNU7-160P - BAG5) Source: https://orviva.ai/learn/snps/rs10149470 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Depression (OR=1.02). [GWAS Catalog] - **AA** (increased): A allele associated with increased Intelligence (MTAG) (β=0.020). [GWAS Catalog] References: PMID:30718901; GWAS Catalog; GCST007342 ## rs10152591 (DRAIC) Source: https://orviva.ai/learn/snps/rs10152591 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with slightly decreased risk of Rheumatoid arthritis (OR=0.85). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.041). [GWAS Catalog] References: PMID:36333501; GWAS Catalog; GCST90132222 ## rs1015538 (ZKSCAN1) Source: https://orviva.ai/learn/snps/rs1015538 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.015). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.14). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018739 ## rs10157166 (SMYD2) Source: https://orviva.ai/learn/snps/rs10157166 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Educational attainment (β=0.008). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs10160784 (RN7SL786P - DGAT2-DT) Source: https://orviva.ai/learn/snps/rs10160784 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Linoleic acid percentage of total fatty acids (β=0.035). [GWAS Catalog] - **TT** (typical): T allele associated with increased Free cholesterol to total lipids ratio in medium HDL (β=0.033). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454486 ## rs10164318 (CEP89) Source: https://orviva.ai/learn/snps/rs10164318 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Urate levels (UKB data field 30880) (β=0.018). [GWAS Catalog] - **TT** (increased): T allele associated with increased Educational attainment (β=0.007). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468107 ## rs10172678 (LINC01122) Source: https://orviva.ai/learn/snps/rs10172678 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.022). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglycerides (β=0.012). [GWAS Catalog] References: PMID:33980691; GWAS Catalog; GCST90020235 ## rs10179482 (CTNNA2 - ANKRD11P1) Source: https://orviva.ai/learn/snps/rs10179482 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.006). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs10182181 (ADCY3 - DNAJC27) Source: https://orviva.ai/learn/snps/rs10182181 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.030). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Obesity (OR=1.08). [GWAS Catalog] References: PMID:23563607; GWAS Catalog; GCST001953 ## rs10184004 (GRB14 - COBLL1) Source: https://orviva.ai/learn/snps/rs10184004 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Cholesterol in Large HDL (β=0.030). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.028). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501134 ## rs10184054 (LINC02850 - APOB) Source: https://orviva.ai/learn/snps/rs10184054 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (typical): G allele associated with increased Phospholipids to Total Lipids in Large LDL percentage (β=0.060). [GWAS Catalog] - **CC** (typical): C allele associated with increased Omega-3 fatty acid levels (β=0.035). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092931 ## rs10184550 (BCL11A) Source: https://orviva.ai/learn/snps/rs10184550 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs1019016 (SEMA3C - EIF4EP4) Source: https://orviva.ai/learn/snps/rs1019016 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Hip index (β=0.023). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Coronary artery disease (OR=1.03). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020026 ## rs10193295 (STRN) Source: https://orviva.ai/learn/snps/rs10193295 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Corpus callosum isthmus area (OR=0.52). [GWAS Catalog] - **GG** (typical): G allele associated with increased End-diastolic bi-ventricular shape (principal component 5) (β=0.044). [GWAS Catalog] References: PMID:39543113; GWAS Catalog; GCST90448484 ## rs10206543 (KDM3AP1 - SLC40A1) Source: https://orviva.ai/learn/snps/rs10206543 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Putamen iron levels (R2* MRI) (β=0.081). [GWAS Catalog] - **AA** (increased): A allele associated with increased IDP SWI T2star left putamen (β=0.075). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551870 ## rs10206899 (ALMS1P1, ALMS1P1) Source: https://orviva.ai/learn/snps/rs10206899 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Plasma N-acetylasparagine levels in chronic kidney disease (OR=0.22). [GWAS Catalog] - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.005). [GWAS Catalog] References: PMID:37277652; GWAS Catalog; GCST90265553 ## rs10210970 (FOSL2 - PLB1) Source: https://orviva.ai/learn/snps/rs10210970 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.030). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.009). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019523 ## rs10223666 (VEGFA - LINC02537) Source: https://orviva.ai/learn/snps/rs10223666 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Serum urate levels (β=0.045). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-hip index (β=0.034). [GWAS Catalog] References: PMID:39406924; GWAS Catalog; GCST90455669 ## rs1022376 (LINC01822 - RN7SL117P) Source: https://orviva.ai/learn/snps/rs1022376 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs10224210 (PRKAG2) Source: https://orviva.ai/learn/snps/rs10224210 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.009). [GWAS Catalog] - **TT** (typical): T allele associated with increased Renal failure (PheCode 585) (β=0.085). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480380 ## rs102274 (TMEM258) Source: https://orviva.ai/learn/snps/rs102274 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Free cholesterol to total lipids ratio in large HDL (OR=0.11). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Fatty acid(20:4)_[M-H]1- levels (OR=0.19). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060116 ## rs102275 (TMEM258) Source: https://orviva.ai/learn/snps/rs102275 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Cholesterol to Total Lipids in Medium LDL percentage (β=0.080). [GWAS Catalog] - **TT** (typical): T allele associated with increased Plasma omega-3 polyunsaturated fatty acid levels (docosapentaenoic acid) (β=0.070). [GWAS Catalog] References: PMID:21829377; GWAS Catalog; GCST001179 ## rs10232076 (ARPC1A) Source: https://orviva.ai/learn/snps/rs10232076 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.014). [GWAS Catalog] - **TT** (typical): T allele associated with increased Linoleic acid percentage of total fatty acids (β=0.032). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454486 ## rs1024161 (CTLA4) Source: https://orviva.ai/learn/snps/rs1024161 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **TT** (slightly elevated): T allele associated with slightly increased risk of Graves' disease (OR=1.30). [GWAS Catalog] - **AA** (slightly elevated): A allele associated with slightly increased risk of Alopecia areata (OR=1.44). [GWAS Catalog] References: PMID:20596022; GWAS Catalog; GCST000719 ## rs10242866 (SNX13) Source: https://orviva.ai/learn/snps/rs10242866 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.011). [GWAS Catalog] - **TT** (typical): T allele associated with increased High-density lipoprotein levels (β=0.029). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662894 ## rs10245353 (LINC03007 - MIR148A) Source: https://orviva.ai/learn/snps/rs10245353 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for body mass index (β=0.035). [GWAS Catalog] - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.018). [GWAS Catalog] References: PMID:25673412; GWAS Catalog; GCST002782 ## rs1024975 (FBXL17) Source: https://orviva.ai/learn/snps/rs1024975 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.008). [GWAS Catalog] - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs10264106 (SFRP4) Source: https://orviva.ai/learn/snps/rs10264106 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.054). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.015). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs10267346 (MYH16) Source: https://orviva.ai/learn/snps/rs10267346 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased diastolic blood pressure (DBP, mean, inv-normal transformed) (β=0.024). [GWAS Catalog] - **CC** (typical): C allele associated with increased Alcohol consumption (drinks per week) (MTAG) (β=0.014). [GWAS Catalog] References: PMID:32451486; GWAS Catalog; GCST010543 ## rs10270358 (LINC01392 - POLR2DP2) Source: https://orviva.ai/learn/snps/rs10270358 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.014). [GWAS Catalog] - **AA** (high): A allele associated with substantially increased risk of Alcohol use disorder (OR=6.04). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs10277115 (UNCX - MICALL2) Source: https://orviva.ai/learn/snps/rs10277115 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **AA** (typical): A allele associated with increased Urate levels (β=0.031). [GWAS Catalog] - **TT** (typical): T allele associated with increased CST3 protein levels (β=0.042). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468894 ## rs10277990 (ZFAND2A-DT - UNCX) Source: https://orviva.ai/learn/snps/rs10277990 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (typical): C allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] - **AA** (typical): A allele associated with increased Concentration of large HDL particles (β=0.030). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302002 ## rs10305420 (GLP1R) Source: https://orviva.ai/learn/snps/rs10305420 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Type 2 diabetes (PheCode 250.2) (β=0.038). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking initiation (β=0.006). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs1031034 (PPP3CA) Source: https://orviva.ai/learn/snps/rs1031034 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Height (β=0.006). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Vitiligo (OR=1.16). [GWAS Catalog] References: PMID:27723757; GWAS Catalog; GCST004785 ## rs10330 (COPE) Source: https://orviva.ai/learn/snps/rs10330 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.12). [GWAS Catalog] - **GG** (typical): G allele associated with increased 25-hydroxyvitamin D levels (skin colour stratified) (β=0.017). [GWAS Catalog] References: PMID:33230300; GWAS Catalog; GCST90292474 ## rs1037169 (BMAL1) Source: https://orviva.ai/learn/snps/rs1037169 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.012). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglyceride levels (β=0.018). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs10401969 (SUGP1) Source: https://orviva.ai/learn/snps/rs10401969 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Cholesterol, total (OR=0.14). [GWAS Catalog] - **TT** (typical): T allele associated with increased Ratio of 18:2 linoleic acid to total fatty acids (β=0.062). [GWAS Catalog] References: PMID:24097068; GWAS Catalog; GCST002221 ## rs10404726 (CRTC1) Source: https://orviva.ai/learn/snps/rs10404726 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (UKB data field 21001) (β=0.017). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.025). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468161 ## rs10405357 (LILRB5) Source: https://orviva.ai/learn/snps/rs10405357 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased ADH1B protein levels (β=0.061). [GWAS Catalog] - **TT** (typical): T allele associated with increased Phospholipids to total lipids ratio in very small VLDL (β=0.025). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90093037 ## rs10405423 (INSR) Source: https://orviva.ai/learn/snps/rs10405423 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (typical): A allele associated with increased Serum urate levels (β=0.035). [GWAS Catalog] - **CC** (typical): C allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.023). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454484 ## rs10409772 (FUT6 - FUT3) Source: https://orviva.ai/learn/snps/rs10409772 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (typical / lower): C allele associated with decreased risk of Other vitamin B12 deficiency anemia (PheCode 281.12) (OR=0.14). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total cholesterol levels (β=0.015). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662895 ## rs10410487 (MAP1S) Source: https://orviva.ai/learn/snps/rs10410487 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.006). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Coronary artery disease (OR=0.96). [GWAS Catalog] References: PMID:36474045; GWAS Catalog; GCST90132314 ## rs10414043 (APOE - APOC1) Source: https://orviva.ai/learn/snps/rs10414043 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Cerebral amyloid deposition (PET imaging) (OR=0.15). [GWAS Catalog] - **GG** (typical): G allele associated with increased Phospholipid levels in large HDL (β=0.043). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092852 ## rs10425465 (PEPD) Source: https://orviva.ai/learn/snps/rs10425465 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Waist-hip index (β=0.028). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Schizophrenia (OR=1.07). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs10425738 (CYP2G1P, CYP2G1P, CYP2B7P, CYP2B7P) Source: https://orviva.ai/learn/snps/rs10425738 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Nicotine metabolite ratio in current smokers (OR=0.24). [GWAS Catalog] - **AA** (high): A allele associated with substantially increased risk of Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trim... (OR=5.65). [GWAS Catalog] References: PMID:27488534; GWAS Catalog; GCST003629 ## rs1042704 (MMP14) Source: https://orviva.ai/learn/snps/rs1042704 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.028). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (additive genetic model) (β=0.021). [GWAS Catalog] References: PMID:30778226; GWAS Catalog; GCST007492 ## rs10427255 (RPL6P5 - METAP2P1) Source: https://orviva.ai/learn/snps/rs10427255 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.012). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs10429950 (TGFB2 - LINC02869) Source: https://orviva.ai/learn/snps/rs10429950 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist circumference adjusted for body mass index (β=0.030). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Chronic obstructive pulmonary disease (OR=1.11). [GWAS Catalog] References: PMID:28448500; GWAS Catalog; GCST004562 ## rs10430577 (MRC1 - SLC39A12) Source: https://orviva.ai/learn/snps/rs10430577 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Caudate iron levels (quantitative susceptibility mapping) (OR=0.25). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of IDP SWI T2star right pallidum (OR=0.19). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90003870 ## rs10431426 (NACAP8 - LINC02412) Source: https://orviva.ai/learn/snps/rs10431426 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Systolic blood pressure (β=0.020). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs10440833 (CDKAL1) Source: https://orviva.ai/learn/snps/rs10440833 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **TT** (typical / lower): T allele associated with decreased risk of Type 2 diabetes (OR=0.13). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Type 2 diabetes (adjusted for BMI) (OR=0.11). [GWAS Catalog] References: PMID:35393509; GWAS Catalog; GCST90093110 ## rs1044486 (USP36) Source: https://orviva.ai/learn/snps/rs1044486 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.016). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Type 2 diabetes (OR=1.04). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs1045242 (TNFAIP8) Source: https://orviva.ai/learn/snps/rs1045242 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.022). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-6 fatty acids to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501225 ## rs10454087 (RETREG3) Source: https://orviva.ai/learn/snps/rs10454087 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased 25-hydroxyvitamin D levels (skin colour stratified) (β=0.013). [GWAS Catalog] - **TT** (increased): T allele associated with increased aseg rh intensity Putamen (β=0.059). [GWAS Catalog] References: PMID:37963177; GWAS Catalog; GCST90448682 ## rs1045642 (ABCB1) Source: https://orviva.ai/learn/snps/rs1045642 (curated, human-reviewed; category: Drug response; effect allele T) - **TT** (increased): ABCB1 3435C>T homozygous. Reduced P-glycoprotein expression; increased bioavailability of many drugs including digoxin, statins, and antiretrovirals. - **CT / TC** (typical): ABCB1 heterozygous. Intermediate P-glycoprotein activity. - **CC** (typical): Normal P-glycoprotein expression and drug transport. References: PharmGKB; PMID:11668218 ## rs10457469 (HEY2 - NCOA7) Source: https://orviva.ai/learn/snps/rs10457469 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Hip circumference (UKB data field 49) (β=0.014). [GWAS Catalog] - **GG** (typical / lower): G allele associated with slightly decreased risk of Migraine or type 2 diabetes (OR=0.97). [GWAS Catalog] References: PMID:36292730; GWAS Catalog; GCST90244660 ## rs10457487 (RSPO3) Source: https://orviva.ai/learn/snps/rs10457487 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Phospholipid levels in large HDL (β=0.029). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hip index (β=0.019). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012229 ## rs1046080 (PRRC2A) Source: https://orviva.ai/learn/snps/rs1046080 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (increased): A allele associated with increased Body mass index (β=0.026). [GWAS Catalog] - **CC** (typical): C allele associated with increased Pallidum iron levels (R2* MRI) (β=0.056). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551868 ## rs10468017 (ALDH1A2) Source: https://orviva.ai/learn/snps/rs10468017 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, maximum, inv-norm transformed) (OR=0.14). [GWAS Catalog] - **TT** (typical): T allele associated with increased Docosahexaenoic acid to total fatty acids percentage (β=0.060). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501107 ## rs1046934 (TSEN15) Source: https://orviva.ai/learn/snps/rs1046934 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Height (β=0.046). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Osteoarthritis (with total hip replacement) (OR=1.09). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566802 ## rs10483727 (C14orf39 - SALRNA1) Source: https://orviva.ai/learn/snps/rs10483727 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.039). [GWAS Catalog] - **TT** (slightly elevated): T allele associated with slightly increased risk of Glaucoma (primary open-angle) (OR=1.32). [GWAS Catalog] References: PMID:25173105; GWAS Catalog; GCST002582 ## rs10490046 (SLC8A1) Source: https://orviva.ai/learn/snps/rs10490046 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Height (β=0.008). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.022). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs10490091 (LINC01122) Source: https://orviva.ai/learn/snps/rs10490091 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.012). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.012). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs10490159 (NRXN1-DT, NRXN1) Source: https://orviva.ai/learn/snps/rs10490159 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.008). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs10490924 (ARMS2/HTRA1) Source: https://orviva.ai/learn/snps/rs10490924 (curated, human-reviewed; category: Health risk; effect allele T) - **TT** (high): ARMS2 A69S homozygous. Strong risk factor for AMD, especially wet AMD. - **GT / TG** (elevated): Increased AMD risk. ARMS2 variant carrier. - **GG** (typical / lower): Typical AMD risk at ARMS2 locus. References: PMID:16174643; GWAS Catalog ## rs1049742 (AOC1) Source: https://orviva.ai/learn/snps/rs1049742 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Urine X-23659 levels in chronic kidney disease (OR=0.17). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.013). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs10500834 (SPTY2D1) Source: https://orviva.ai/learn/snps/rs10500834 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (typical): A allele associated with increased Low density lipoprotein cholesterol levels (β=0.024). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.012). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018739 ## rs1050316 (MEF2D) Source: https://orviva.ai/learn/snps/rs1050316 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Headache (β=0.010). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.014). [GWAS Catalog] References: PMID:29397368; GWAS Catalog; GCST005337 ## rs10504255 (UBXN2B - CYP7A1) Source: https://orviva.ai/learn/snps/rs10504255 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with increased triglyceride (minimum, inv-norm transformed) (β=0.030). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs1050529 (HLA-B) Source: https://orviva.ai/learn/snps/rs1050529 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-hip index (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Basal cell carcinoma (OR=1.11). [GWAS Catalog] References: PMID:27539887; GWAS Catalog; GCST003726 ## rs1050828 (G6PD) Source: https://orviva.ai/learn/snps/rs1050828 (imported from public databases, not individually reviewed; category: Drug response) - **0** (typical): AA - **TT** (elevated): Homozygous risk allele (T). Associated with: Anemia, nonspherocytic hemolytic, due to g6pd deficiency; phenotype not specified; Direct bilirubin levels - **CC** (typical): Normal G6PD function at this position. Standard drug dosing. - **CT** (increased): G6PD A- variant carrier. Risk of hemolytic anemia with oxidative drugs. Rasburicase contraindicated. References: PharmGKB:3; Drug:artesunate; Type:Toxicity ## rs10510554 (RARB) Source: https://orviva.ai/learn/snps/rs10510554 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Morbid obesity (PheCode 278.11) (β=0.049). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.016). [GWAS Catalog] References: PMID:28892062; GWAS Catalog; GCST004904 ## rs1051266 (SLC19A1) Source: https://orviva.ai/learn/snps/rs1051266 (imported from public databases, not individually reviewed; category: Drug response) - **CT** (typical): Genotype CT is associated with decreased response to methotrexate in people with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype TT. - **T** (typical): Allele T is associated with increased response to folic acid, hydroxychloroquine, methotrexate and sulfasalazine in people with Arthritis, Rheumatoid as compared to allele C. - **TT** (typical): Genotype TT is associated with increased response to methotrexate in people with Arthritis, Rheumatoid as compared to genotypes CC + CT. - **CC** (typical): Genotype CC is associated with increased response to capecitabine, fluorouracil, irinotecan or leucovorin in people with Colorectal Neoplasms as compared to genotypes CT + TT. References: PharmGKB ## rs10515514 (SPRY4-AS1) Source: https://orviva.ai/learn/snps/rs10515514 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.015). [GWAS Catalog] - **TT** (typical): T allele associated with increased Diastolic blood pressure (β=0.012). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662909 ## rs1051613 (TMEM175) Source: https://orviva.ai/learn/snps/rs1051613 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased High density lipoprotein cholesterol levels (β=0.013). [GWAS Catalog] - **GG** (increased): G allele associated with increased A body shape index (β=0.018). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020024 ## rs1051730 (CHRNA3) Source: https://orviva.ai/learn/snps/rs1051730 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (typical / lower): A allele associated with decreased risk of Smoking behaviour (cigarettes smoked per day) (OR=0.10). [GWAS Catalog] - **TT** (slightly elevated): T allele associated with slightly increased risk of Lung cancer in ever smokers (OR=1.34). [GWAS Catalog] References: PMID:30104567; GWAS Catalog; GCST006400 ## rs10519068 (RORA) Source: https://orviva.ai/learn/snps/rs10519068 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Allergic disease (asthma, hay fever or eczema) (OR=1.09). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs1053651 (TCAP) Source: https://orviva.ai/learn/snps/rs1053651 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (typical): A allele associated with increased Alcohol consumption (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased High-density lipoprotein levels (β=0.020). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662858 ## rs1053900 (MEG3) Source: https://orviva.ai/learn/snps/rs1053900 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.015). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Type 2 diabetes (OR=1.03). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245845 ## rs1054442 (DDN) Source: https://orviva.ai/learn/snps/rs1054442 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Educational attainment (MTAG) (β=0.013). [GWAS Catalog] - **CC** (typical): C allele associated with increased Dietary Approaches to Stop Hypertension (DASH) diet (β=0.085). [GWAS Catalog] References: PMID:36297114; GWAS Catalog; GCST90244669 ## rs1054684 (HLA-DQB2 - HLA-DOB) Source: https://orviva.ai/learn/snps/rs1054684 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Bipolar disorder or Crohn's disease (MTAG) (β=0.026). [GWAS Catalog] - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.030). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs1057868 (POR) Source: https://orviva.ai/learn/snps/rs1057868 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Coffee consumption (cups per day) (β=0.029). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.016). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662893 ## rs1057910 (CYP2C9) Source: https://orviva.ai/learn/snps/rs1057910 (curated, human-reviewed; category: Drug response; effect allele C) - **AC / CA** (reduced): CYP2C9*3 carrier. Reduced metabolism of warfarin, NSAIDs, and oral hypoglycemics. - **CC** (reduced): CYP2C9*3 homozygous. Significantly reduced drug metabolism. - **AA** (typical): Normal CYP2C9*3 function. References: CPIC; PMID:25099164; PharmGKB ## rs1058319 (SLC2A4RG) Source: https://orviva.ai/learn/snps/rs1058319 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with marginally increased risk of Prostate cancer (OR=1.11). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.010). [GWAS Catalog] References: PMID:37945903; GWAS Catalog; GCST90274713 ## rs1061170 (CFH) Source: https://orviva.ai/learn/snps/rs1061170 (curated, human-reviewed; category: Health risk; effect allele C) - **CC** (elevated): Significantly increased risk for age-related macular degeneration (AMD). CFH Y402H variant. - **TC / CT** (slightly elevated): Moderately increased AMD risk with one copy of CFH variant. - **TT** (typical / lower): Typical risk for AMD. References: PMID:15761122; GWAS Catalog ## rs1064213 (PLCL1) Source: https://orviva.ai/learn/snps/rs1064213 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (typical): A allele associated with marginally increased risk of Chronotype (OR=1.05). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Allergic disease (asthma, hay fever or eczema) (OR=1.03). [GWAS Catalog] References: PMID:30696823; GWAS Catalog; GCST007576 ## rs1064395 (NCAN) Source: https://orviva.ai/learn/snps/rs1064395 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.015). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Bipolar disorder (OR=1.17). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs1065852 (CYP2D6) Source: https://orviva.ai/learn/snps/rs1065852 (curated, human-reviewed; category: Drug response; effect allele A) - **AA** (reduced): CYP2D6*10 or *4 variant. Reduced CYP2D6 activity; affects metabolism of codeine, tamoxifen, SSRIs, beta-blockers. - **GA / AG** (reduced): CYP2D6 intermediate metabolizer. Partially reduced drug metabolism. - **GG** (typical): Normal CYP2D6 activity. References: CPIC; PharmGKB ## rs1065853 (APOE - APOC1) Source: https://orviva.ai/learn/snps/rs1065853 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (typical / lower): G allele associated with decreased risk of LDL cholesterol (OR=0.60). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Polyunsaturated fatty acids to monounsaturated fatty acids ratio (OR=0.13). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501230 ## rs10736116 (ARHGAP19 - Metazoa_SRP) Source: https://orviva.ai/learn/snps/rs10736116 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.038). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.012). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs10744137 (LMO3 - SKP1P2) Source: https://orviva.ai/learn/snps/rs10744137 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.013). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Knee osteoarthritis (OR=1.03). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs10753232 (STX6) Source: https://orviva.ai/learn/snps/rs10753232 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased wg rh intensity-contrast superiorfrontal (β=0.093). [GWAS Catalog] - **CC** (typical): C allele associated with increased Caudate iron levels (quantitative susceptibility mapping) (β=0.044). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90003854 ## rs10757274 (9p21.3) Source: https://orviva.ai/learn/snps/rs10757274 (curated, human-reviewed; category: Health risk; effect allele G) - **GG** (elevated): Increased coronary heart disease risk. Second independent signal at 9p21.3 locus. - **AG / GA** (slightly elevated): Moderately increased CHD risk. - **AA** (typical / lower): Typical CHD risk at this locus. References: PMID:17478679; GWAS Catalog ## rs10758593 (GLIS3) Source: https://orviva.ai/learn/snps/rs10758593 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Gestational diabetes mellitus (OR=0.18). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Insomnia (OR=1.04). [GWAS Catalog] References: PMID:40325049; GWAS Catalog; GCST90566419 ## rs10758594 (GLIS3) Source: https://orviva.ai/learn/snps/rs10758594 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Insomnia (β=0.005). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Osteoarthritis of the hip or knee (OR=1.04). [GWAS Catalog] References: PMID:30664745; GWAS Catalog; GCST007092 ## rs10761661 (ALDH7A1P4 - ADO) Source: https://orviva.ai/learn/snps/rs10761661 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.018). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Psoriasis or type 2 diabetes (trans-disease meta-analysis) (OR=1.06). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs10761716 (RNU6-543P - NRBF2) Source: https://orviva.ai/learn/snps/rs10761716 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Triglyceride levels in small VLDL (β=0.042). [GWAS Catalog] - **GG** (increased): G allele associated with increased Smoking cessation (β=0.009). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092978 ## rs10761785 (REEP3) Source: https://orviva.ai/learn/snps/rs10761785 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Height (β=0.014). [GWAS Catalog] - **TT** (typical): T allele associated with increased Free cholesterol in large HDL (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501138 ## rs10769254 (MYBPC3) Source: https://orviva.ai/learn/snps/rs10769254 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased HDL cholesterol levels in current drinkers (β=0.009). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.014). [GWAS Catalog] References: PMID:30698716; GWAS Catalog; GCST008085 ## rs10770611 (TCP1P3 - LINC02468) Source: https://orviva.ai/learn/snps/rs10770611 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Diastolic blood pressure (β=0.030). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Diastolic blood pressure (BMI adjusted) (OR=0.36). [GWAS Catalog] References: PMID:39048560; GWAS Catalog; GCST90335165 ## rs10773000 (CDK2AP1, MTRFR) Source: https://orviva.ai/learn/snps/rs10773000 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Triglyceride to HDL cholesterol ratio (β=0.030). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.025). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs1077394 (BAG6) Source: https://orviva.ai/learn/snps/rs1077394 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Systolic blood pressure (UKB data field 4080) (β=0.018). [GWAS Catalog] - **CC** (typical): C allele associated with increased Saturated fatty acid percentage of total fatty acids (β=0.024). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468179 ## rs10774579 (HNF1A-AS1) Source: https://orviva.ai/learn/snps/rs10774579 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased HDL cholesterol levels (β=0.016). [GWAS Catalog] - **CC** (typical): C allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs10774625 (ATXN2) Source: https://orviva.ai/learn/snps/rs10774625 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with marginally increased risk of Gout (OR=1.07). [GWAS Catalog] - **GG** (increased): G allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs10775406 (SNX11) Source: https://orviva.ai/learn/snps/rs10775406 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased triglyceride (mean, inv-norm transformed) (β=0.029). [GWAS Catalog] - **GG** (typical): G allele associated with increased Monounsaturated fatty acid levels (β=0.020). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476435 ## rs1077835 (LIPC, ALDH1A2) Source: https://orviva.ai/learn/snps/rs1077835 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Phosphatidylcholine levels (OR=0.18). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-6 fatty acids to total fatty acids percentage (β=0.070). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501225 ## rs10786831 (SORCS3) Source: https://orviva.ai/learn/snps/rs10786831 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Insomnia (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Major depressive disorder (β=0.030). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131901 ## rs10788284 (PLEKHA1) Source: https://orviva.ai/learn/snps/rs10788284 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.045). [GWAS Catalog] - **TT** (increased): T allele associated with increased What is your height? (cm, inv-normal transformed) (β=0.028). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479637 ## rs10788569 (CFL1P1, CFL1P1) Source: https://orviva.ai/learn/snps/rs10788569 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Waist-hip ratio (β=0.013). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.17). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008997 ## rs10789285 (LINC02791 - LINC01758) Source: https://orviva.ai/learn/snps/rs10789285 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Educational attainment (MTAG) (β=0.010). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Psoriasis (OR=1.12). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006571 ## rs10789369 (LINC01360 - LINC02238) Source: https://orviva.ai/learn/snps/rs10789369 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.012). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Schizophrenia (OR=1.09). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs10792832 (RNU6-560P - LINC02695) Source: https://orviva.ai/learn/snps/rs10792832 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Alzheimer's disease (late onset) (OR=1.15). [GWAS Catalog] - **AA** (high): A allele associated with substantially increased risk of Alzheimer's disease or educational attainment (pleiotropy) (OR=76.51). [GWAS Catalog] References: PMID:34743297; GWAS Catalog; GCST90095190 ## rs10797115 (SEMA4D - GADD45G) Source: https://orviva.ai/learn/snps/rs10797115 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.012). [GWAS Catalog] - **TT** (typical): T allele associated with increased Cholesteryl Esters to Total Lipids in Large HDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501137 ## rs10807138 (KRT18P9 - CYCSP55) Source: https://orviva.ai/learn/snps/rs10807138 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Height (OR=0.40). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Osteoarthritis (with total knee replacement) (OR=0.94). [GWAS Catalog] References: PMID:34054925; GWAS Catalog; GCST011972 ## rs10808546 (TRIB1AL) Source: https://orviva.ai/learn/snps/rs10808546 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Triglycerides (β=0.080). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.016). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007142 ## rs10808583 (CCDC26) Source: https://orviva.ai/learn/snps/rs10808583 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Height (maximum, inv-normal transformed) (OR=0.13). [GWAS Catalog] - **AA** (typical): A allele associated with increased Atrial fibrillation (β=0.026). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475359 ## rs10810147 (NFIB-AS1) Source: https://orviva.ai/learn/snps/rs10810147 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.011). [GWAS Catalog] - **AA** (typical): A allele associated with increased Attention deficit hyperactivity disorder (β=0.017). [GWAS Catalog] References: PMID:39375568; GWAS Catalog; GCST90446645 ## rs1081105 (APOE - APOC1) Source: https://orviva.ai/learn/snps/rs1081105 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (high): C allele associated with substantially increased risk of Alzheimer's disease or family history of Alzheimer's disease (OR=32.50). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Total omega-6 fatty acid levels (OR=0.12). [GWAS Catalog] References: PMID:30617256; GWAS Catalog; GCST007320 ## rs10811662 (CDKN2B-AS1) Source: https://orviva.ai/learn/snps/rs10811662 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Diabetes / "Sugar" (OR=0.13). [GWAS Catalog] - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs10814119 (ENHO-AS1 - CNTFR) Source: https://orviva.ai/learn/snps/rs10814119 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Diastolic blood pressure (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased Substantia nigra iron levels (quantitative susceptibility mapping) (β=0.041). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551871 ## rs10818576 (DAB2IP) Source: https://orviva.ai/learn/snps/rs10818576 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Standing height (UKB data field 50) (β=0.009). [GWAS Catalog] - **TT** (typical): T allele associated with increased Coronary artery disease (β=0.043). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs10819272 (RALGPS1) Source: https://orviva.ai/learn/snps/rs10819272 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Drinks per week (β=0.007). [GWAS Catalog] - **TT** (increased): T allele associated with increased Educational attainment (β=0.007). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs10821311 (MIRLET7A1HG, LINC02603) Source: https://orviva.ai/learn/snps/rs10821311 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.036). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs10821907 (A1CF - MIX23P2) Source: https://orviva.ai/learn/snps/rs10821907 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.038). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Colorectal cancer or advanced adenoma (OR=1.08). [GWAS Catalog] References: PMID:30510241; GWAS Catalog; GCST007856 ## rs10822145 (JMJD1C) Source: https://orviva.ai/learn/snps/rs10822145 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Triglycerides to total lipids ratio in small VLDL (β=0.045). [GWAS Catalog] - **TT** (typical): T allele associated with increased Omega-3 fatty acids levels (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501221 ## rs10832956 (SPTY2D1) Source: https://orviva.ai/learn/snps/rs10832956 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.021). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.020). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs10832963 (SPTY2D1 - SRSF3P1) Source: https://orviva.ai/learn/snps/rs10832963 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (baseline) (β=0.016). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cholesterol levels (UKB data field 30690) (β=0.019). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs10840606 (MIR4686 - ASCL2) Source: https://orviva.ai/learn/snps/rs10840606 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Prostate cancer (OR=0.14). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.017). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479536 ## rs10842708 (SSPN-AS1, ITPR2-AS2) Source: https://orviva.ai/learn/snps/rs10842708 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for body mass index (β=0.036). [GWAS Catalog] - **AA** (typical): A allele associated with increased HDL cholesterol (β=0.018). [GWAS Catalog] References: PMID:30275531; GWAS Catalog; GCST006611 ## rs10842717 (ITPR2-AS2, ITPR2) Source: https://orviva.ai/learn/snps/rs10842717 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Putamen iron levels (quantitative susceptibility mapping) (β=0.051). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-hip index (β=0.019). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551869 ## rs10842720 (ITPR2, ITPR2-AS2) Source: https://orviva.ai/learn/snps/rs10842720 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.024). [GWAS Catalog] - **TT** (typical): T allele associated with increased Putamen iron levels (R2* MRI) (β=0.054). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551870 ## rs10845602 (GPR19) Source: https://orviva.ai/learn/snps/rs10845602 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (slightly elevated): A allele associated with slightly increased risk of Systemic lupus erythematosus (OR=1.21). [GWAS Catalog] - **GG** (increased): G allele associated with increased Smoking initiation (β=0.006). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs10846653 (RFLNA) Source: https://orviva.ai/learn/snps/rs10846653 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with slightly decreased risk of Osteoarthritis of the hip or knee (with total joint replacement) (OR=0.94). [GWAS Catalog] - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.025). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566804 ## rs10846742 (SCARB1) Source: https://orviva.ai/learn/snps/rs10846742 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical): A allele associated with increased IFI30 protein levels (β=0.073). [GWAS Catalog] - **GG** (typical): G allele associated with increased Hyperlipidemia (PheCode 272.1) (β=0.074). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475718 ## rs10852456 (NFAT5) Source: https://orviva.ai/learn/snps/rs10852456 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs10853101 (HOXB3, HOXB-AS3, HOXB6) Source: https://orviva.ai/learn/snps/rs10853101 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Hand grip strength left (UKB data field 46) (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with increased Overweight, obesity and other hyperalimentation (PheCode 278) (β=0.035). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468168 ## rs10857147 (PRDM8 - FGF5) Source: https://orviva.ai/learn/snps/rs10857147 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.63). [GWAS Catalog] - **AA** (typical): A allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.003). [GWAS Catalog] References: PMID:30578418; GWAS Catalog; GCST007267 ## rs10861669 (RIC8B) Source: https://orviva.ai/learn/snps/rs10861669 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.015). [GWAS Catalog] - **AA** (typical): A allele associated with increased Free Cholesterol to Total Lipids in Small VLDL percentage (β=0.020). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs10864726 (GALNT2) Source: https://orviva.ai/learn/snps/rs10864726 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Phospholipids to Total Lipids in Small HDL percentage (β=0.050). [GWAS Catalog] - **CC** (typical): C allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (UKB data field 2... (β=0.048). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269551 ## rs10865793 (NR1D2 - LINC00691) Source: https://orviva.ai/learn/snps/rs10865793 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (increased): G allele associated with increased Fluid intelligence score (baseline) (β=0.024). [GWAS Catalog] - **CC** (typical): C allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs10868080 (RMI1 - SLC28A3) Source: https://orviva.ai/learn/snps/rs10868080 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.023). [GWAS Catalog] - **AA** (typical): A allele associated with increased Phospholipids to Total Lipids in Large HDL percentage (β=0.020). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs10874312 (ADGRL2 - LINC01362) Source: https://orviva.ai/learn/snps/rs10874312 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.009). [GWAS Catalog] - **AA** (typical): A allele associated with increased Urate levels (β=0.011). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs10876864 (SUOX - IKZF4) Source: https://orviva.ai/learn/snps/rs10876864 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Allergic disease (asthma, hay fever or eczema) (OR=1.05). [GWAS Catalog] - **AA** (increased): A allele associated with increased Intelligence (MTAG) (β=0.021). [GWAS Catalog] References: PMID:29326435; GWAS Catalog; GCST005316 ## rs10878359 (HMGA2 - MIR6074) Source: https://orviva.ai/learn/snps/rs10878359 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.025). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of PR interval (OR=0.39). [GWAS Catalog] References: PMID:32439900; GWAS Catalog; GCST010320 ## rs10885480 (NRAP) Source: https://orviva.ai/learn/snps/rs10885480 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.011). [GWAS Catalog] - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs10886864 (RPL19P16 - LINC01153) Source: https://orviva.ai/learn/snps/rs10886864 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased High density lipoprotein cholesterol levels (β=0.036). [GWAS Catalog] - **CC** (increased): C allele associated with increased Snoring (BMI-adjusted) (β=0.056). [GWAS Catalog] References: PMID:38461358; GWAS Catalog; GCST90570536 ## rs10889334 (DOCK7) Source: https://orviva.ai/learn/snps/rs10889334 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (typical): G allele associated with increased Omega-6 fatty acids to total fatty acids percentage (β=0.050). [GWAS Catalog] - **CC** (typical): C allele associated with increased Total cholesterol levels (β=0.071). [GWAS Catalog] References: PMID:40210677; GWAS Catalog; GCST90528078 ## rs10891480 (NCAM1-AS2) Source: https://orviva.ai/learn/snps/rs10891480 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Tobacco use disorder (PheCode 318) (β=0.039). [GWAS Catalog] - **GG** (typical): G allele associated with increased Systolic blood pressure (β=0.014). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018972 ## rs10898240 (DLG2) Source: https://orviva.ai/learn/snps/rs10898240 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs10908278 (HNF1B) Source: https://orviva.ai/learn/snps/rs10908278 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **TT** (typical): T allele associated with marginally increased risk of Type 2 diabetes (OR=1.09). [GWAS Catalog] - **AA** (increased): A allele associated with increased Type 2 diabetes (adjusted for BMI) (β=0.088). [GWAS Catalog] References: PMID:35393509; GWAS Catalog; GCST90093110 ## rs10914684 (PHC2) Source: https://orviva.ai/learn/snps/rs10914684 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.009). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs10922100 (CFH) Source: https://orviva.ai/learn/snps/rs10922100 (imported from public databases, not individually reviewed; category: Drug response; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Delta-like protein 3 level in Chronic kidney disease with hypertension and no... (OR=0.48). [GWAS Catalog] - **AA** (typical): A allele associated with increased Opioid-binding protein/cell adhesion molecule levels (β=0.090). [GWAS Catalog] References: PMID:34648354; GWAS Catalog; GCST90248770 ## rs10935779 (ANKUB1, RNF13) Source: https://orviva.ai/learn/snps/rs10935779 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs10938398 (PRDX4P1 - THAP12P9) Source: https://orviva.ai/learn/snps/rs10938398 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (β=0.033). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.044). [GWAS Catalog] References: PMID:38538606; GWAS Catalog; GCST90428119 ## rs10947428 (ITPR3) Source: https://orviva.ai/learn/snps/rs10947428 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Coeliac disease (OR=0.37). [GWAS Catalog] - **TT** (increased): T allele associated with increased Insomnia (β=0.012). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131901 ## rs10947690 (MDGA1) Source: https://orviva.ai/learn/snps/rs10947690 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] - **AA** (typical): A allele associated with increased Depression (β=0.019). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs10952289 (AOC1) Source: https://orviva.ai/learn/snps/rs10952289 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Urine (N(1) + N(8))-acetylspermidine levels in chronic kidney disease (OR=0.10). [GWAS Catalog] - **TT** (increased): T allele associated with increased Low hand grip strength (60 years and older) (EWGSOP) (β=0.043). [GWAS Catalog] References: PMID:37277652; GWAS Catalog; GCST90264184 ## rs10953957 (FEZF1 - CADPS2) Source: https://orviva.ai/learn/snps/rs10953957 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs10954312 (MKLN1) Source: https://orviva.ai/learn/snps/rs10954312 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased Systolic blood pressure (MTAG) (β=0.011). [GWAS Catalog] References: PMID:39537608; GWAS Catalog; GCST90449056 ## rs10954646 (FMC1-LUC7L2, LUC7L2) Source: https://orviva.ai/learn/snps/rs10954646 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased High-density lipoprotein levels (β=0.013). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs10954772 (PURG) Source: https://orviva.ai/learn/snps/rs10954772 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.019). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Type 2 diabetes (OR=1.04). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018947 ## rs10968576 (LINGO2) Source: https://orviva.ai/learn/snps/rs10968576 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Body mass index (β=0.026). [GWAS Catalog] - **AA** (typical): A allele associated with increased High-density lipoprotein levels (MTAG) (β=0.017). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179147 ## rs10970292 (CARM1P1 - LINC01231) Source: https://orviva.ai/learn/snps/rs10970292 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs10992863 (PHF2 - MIR4291) Source: https://orviva.ai/learn/snps/rs10992863 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Cigarettes smoked per day (β=0.013). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Childhood onset type 2 diabetes (OR=1.23). [GWAS Catalog] References: PMID:33479058; GWAS Catalog; GCST012043 ## rs10992867 (PHF2 - MIR4291) Source: https://orviva.ai/learn/snps/rs10992867 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.016). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.031). [GWAS Catalog] References: PMID:28869591; GWAS Catalog; GCST006288 ## rs11000785 (CAMK2G) Source: https://orviva.ai/learn/snps/rs11000785 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Educational attainment (MTAG) (β=0.008). [GWAS Catalog] - **CC** (typical): C allele associated with increased Asthma (β=0.025). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006571 ## rs11001296 (SAMD8) Source: https://orviva.ai/learn/snps/rs11001296 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.009). [GWAS Catalog] - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.027). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs11012783 (SLC39A12 - CACNB2) Source: https://orviva.ai/learn/snps/rs11012783 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of IDP SWI T2star right caudate (OR=0.15). [GWAS Catalog] - **AA** (typical): A allele associated with increased Diastolic blood pressure (β=0.020). [GWAS Catalog] References: PMID:38459180; GWAS Catalog; GCST90301698 ## rs11021232 (LNCRNA-IUR - FAM76B) Source: https://orviva.ai/learn/snps/rs11021232 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (slightly elevated): C allele associated with slightly increased risk of Vitiligo (OR=1.33). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.013). [GWAS Catalog] References: PMID:27723757; GWAS Catalog; GCST004785 ## rs11030088 (BDNF-AS, LINC00678) Source: https://orviva.ai/learn/snps/rs11030088 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Free Cholesterol to Total Lipids in Small LDL percentage (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased Ratio of linoleic acid to total fatty acids (β=0.031). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092881 ## rs11030102 (BDNF, BDNF-AS) Source: https://orviva.ai/learn/snps/rs11030102 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Triglyceride levels (UKB data field 30870) (β=0.015). [GWAS Catalog] - **CC** (increased): C allele associated with increased Educational attainment (years of education) (β=0.010). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006442 ## rs11030108 (BDNF, BDNF-AS) Source: https://orviva.ai/learn/snps/rs11030108 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Polyunsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-hip ratio (β=0.015). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008996 ## rs11038716 (PHF21A) Source: https://orviva.ai/learn/snps/rs11038716 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Insomnia (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs11039325 (MTCH2 - AGBL2) Source: https://orviva.ai/learn/snps/rs11039325 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Triglyceride levels (MTAG) (β=0.045). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.035). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs11055034 (APOLD1) Source: https://orviva.ai/learn/snps/rs11055034 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.017). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Prostate cancer (OR=1.12). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs11055888 (GNAI2P1 - RPL30P11) Source: https://orviva.ai/learn/snps/rs11055888 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Breast cancer (OR=1.08). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.015). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs11057418 (RFLNA) Source: https://orviva.ai/learn/snps/rs11057418 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Waist-hip index (β=0.058). [GWAS Catalog] - **GG** (typical): G allele associated with increased Diabetes / "Sugar" (β=0.054). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479589 ## rs11057468 (RFLNA) Source: https://orviva.ai/learn/snps/rs11057468 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Waist-hip index (β=0.028). [GWAS Catalog] - **CC** (typical): C allele associated with increased HDL cholesterol levels (β=0.014). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs11060112 (CCDC62) Source: https://orviva.ai/learn/snps/rs11060112 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.029). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Parkinson's disease (OR=0.11). [GWAS Catalog] References: PMID:32201043; GWAS Catalog; GCST010991 ## rs1106287 (MOV10) Source: https://orviva.ai/learn/snps/rs1106287 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Height (β=0.014). [GWAS Catalog] - **TT** (typical): T allele associated with increased Primary open angle glaucoma (multi-trait analysis) (β=0.081). [GWAS Catalog] References: PMID:37386247; GWAS Catalog; GCST90310211 ## rs1106363 (NTM) Source: https://orviva.ai/learn/snps/rs1106363 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs11065836 (CUX2) Source: https://orviva.ai/learn/snps/rs11065836 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.30). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Systolic blood pressure (BMI adjusted) (OR=0.54). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132904 ## rs11065979 (ATXN2-AS) Source: https://orviva.ai/learn/snps/rs11065979 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Parental lifespan (OR=0.28). [GWAS Catalog] - **TT** (typical): T allele associated with increased Coronary artery disease (MTAG) (β=0.022). [GWAS Catalog] References: PMID:39537608; GWAS Catalog; GCST90449059 ## rs11066188 (HECTD4) Source: https://orviva.ai/learn/snps/rs11066188 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heart failure (β=0.031). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs11066309 (PTPN11) Source: https://orviva.ai/learn/snps/rs11066309 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.38). [GWAS Catalog] - **GG** (increased): G allele associated with increased Parental longevity (combined parental attained age, Martingale residuals) (β=0.015). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132904 ## rs11066320 (PTPN11) Source: https://orviva.ai/learn/snps/rs11066320 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Hypothyroidism (OR=0.14). [GWAS Catalog] - **AA** (typical): A allele associated with increased Polyunsaturated fatty acid levels (β=0.026). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092939 ## rs11066325 (PTPN11) Source: https://orviva.ai/learn/snps/rs11066325 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (slightly elevated): C allele associated with slightly increased risk of HDL cholesterol levels (OR=1.37). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.031). [GWAS Catalog] References: PMID:35884923; GWAS Catalog; GCST90134519 ## rs11066359 (RPH3A) Source: https://orviva.ai/learn/snps/rs11066359 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Drinks per week (OR=0.16). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.029). [GWAS Catalog] References: PMID:35831902; GWAS Catalog; GCST90131910 ## rs11067228 (OSTF1P1 - Y_RNA) Source: https://orviva.ai/learn/snps/rs11067228 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.016). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.018). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs11072567 (NRG4) Source: https://orviva.ai/learn/snps/rs11072567 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.045). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum urate levels (β=0.043). [GWAS Catalog] References: PMID:39406924; GWAS Catalog; GCST90455669 ## rs11075990 (FTO) Source: https://orviva.ai/learn/snps/rs11075990 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (slightly elevated): G allele associated with slightly increased risk of Body mass index (OR=1.35). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Gout (OR=0.94). [GWAS Catalog] References: PMID:23563607; GWAS Catalog; GCST001955 ## rs11078917 (CDK12 - NEUROD2) Source: https://orviva.ai/learn/snps/rs11078917 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased HDL cholesterol (β=0.034). [GWAS Catalog] - **CC** (increased): C allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs11080107 (ANKRD13B, ABHD15-AS1) Source: https://orviva.ai/learn/snps/rs11080107 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with slightly decreased risk of Coronary artery disease (OR=0.97). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.019). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018727 ## rs11080134 (ATAD5) Source: https://orviva.ai/learn/snps/rs11080134 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.019). [GWAS Catalog] - **AA** (typical): A allele associated with increased Diastolic blood pressure (β=0.097). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs11083560 (LTBP4) Source: https://orviva.ai/learn/snps/rs11083560 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.006). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Diastolic blood pressure (OR=0.16). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132904 ## rs1108548 (LINC02869) Source: https://orviva.ai/learn/snps/rs1108548 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Atrial fibrillation (β=0.041). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.019). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020029 ## rs11087740 (CASC20 - LINC01713) Source: https://orviva.ai/learn/snps/rs11087740 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (baseline) (β=0.012). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.13). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs11090045 (ZC3H7B) Source: https://orviva.ai/learn/snps/rs11090045 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Sensitivity to environmental stress and adversity (β=0.015). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Smoking cessation (OR=1.03). [GWAS Catalog] References: PMID:33082346; GWAS Catalog; GCST011702 ## rs1109166 (LCAT, SLC12A4) Source: https://orviva.ai/learn/snps/rs1109166 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Polyunsaturated fatty acids to monounsaturated fatty acids ratio (β=0.020). [GWAS Catalog] - **TT** (typical): T allele associated with increased HDL cholesterol levels (β=0.086). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501230 ## rs1109480 (CABP1) Source: https://orviva.ai/learn/snps/rs1109480 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs1109859 (PEMT) Source: https://orviva.ai/learn/snps/rs1109859 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Free Cholesterol to Total Lipids in Small HDL percentage (β=0.020). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.025). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012230 ## rs11118308 (LYPLAL1-AS1) Source: https://orviva.ai/learn/snps/rs11118308 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Triglycerides to Total Lipids in Small LDL percentage (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501257 ## rs11118310 (LYPLAL1-AS1) Source: https://orviva.ai/learn/snps/rs11118310 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.052). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglycerides to Total Lipids in Very Large HDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501305 ## rs11122450 (GALNT2) Source: https://orviva.ai/learn/snps/rs11122450 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **TT** (typical): T allele associated with increased High density lipoprotein cholesterol levels (β=0.058). [GWAS Catalog] - **GG** (typical): G allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.050). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501219 ## rs11122456 (GALNT2) Source: https://orviva.ai/learn/snps/rs11122456 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Omega-3 fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.012). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs11123169 (PSD4 - PAX8-AS1) Source: https://orviva.ai/learn/snps/rs11123169 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Chronic kidney disease (OR=1.05). [GWAS Catalog] References: PMID:31152163; GWAS Catalog; GCST008064 ## rs111278137 (CEACAM16-AS1) Source: https://orviva.ai/learn/snps/rs111278137 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Phospholipids in small LDL (UKB data field 23546) (OR=0.13). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total omega-6 fatty acid levels (β=0.079). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269643 ## rs111406374 (GATAD2A) Source: https://orviva.ai/learn/snps/rs111406374 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.025). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride to HDL cholesterol ratio (β=0.056). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs111489708 (MGLL) Source: https://orviva.ai/learn/snps/rs111489708 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Free Cholesterol to Total Lipids in Very Large HDL percentage (β=0.030). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.025). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs11150745 (RPTOR) Source: https://orviva.ai/learn/snps/rs11150745 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.041). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.031). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475153 ## rs11152213 (RNU4-17P - MC4R) Source: https://orviva.ai/learn/snps/rs11152213 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with marginally increased risk of Obesity (OR=1.19). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.025). [GWAS Catalog] References: PMID:23563607; GWAS Catalog; GCST001953 ## rs11155073 (LINC01625 - ATP5PBP6) Source: https://orviva.ai/learn/snps/rs11155073 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.028). [GWAS Catalog] - **TT** (typical): T allele associated with increased Polyunsaturated fatty acids to total fatty acids percentage (UKB data field 2... (β=0.031). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269550 ## rs11155242 (ADGRG6) Source: https://orviva.ai/learn/snps/rs11155242 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with marginally increased risk of Chronic obstructive pulmonary disease (OR=1.14). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.011). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs11159347 (OR7K1P - LINC02306) Source: https://orviva.ai/learn/snps/rs11159347 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.018). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.025). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs11160173 (SERPINA2 - SERPINA1) Source: https://orviva.ai/learn/snps/rs11160173 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased CRIM1 protein levels (β=0.040). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (baseline) (β=0.008). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs11172113 (LRP1) Source: https://orviva.ai/learn/snps/rs11172113 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with marginally increased risk of Migraine (OR=1.11). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.007). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs11172134 (STAC3 - R3HDM2) Source: https://orviva.ai/learn/snps/rs11172134 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Low density lipoprotein cholesterol levels (β=0.015). [GWAS Catalog] - **TT** (typical): T allele associated with increased Ratio of monounsaturated fatty acids to total fatty acids (β=0.030). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239658 ## rs11172181 (R3HDM2) Source: https://orviva.ai/learn/snps/rs11172181 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Serum urate levels (β=0.069). [GWAS Catalog] - **CC** (typical): C allele associated with increased Omega-6 fatty acids to omega-3 fatty acids ratio (β=0.020). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319906 ## rs111751551 (PRPF38B) Source: https://orviva.ai/learn/snps/rs111751551 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Low density lipoprotein cholesterol levels (β=0.068). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.035). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019512 ## rs11176927 (LINC02421 - LINC01479) Source: https://orviva.ai/learn/snps/rs11176927 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs111834982 (GK5 - XRN1) Source: https://orviva.ai/learn/snps/rs111834982 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.018). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total fatty acid levels (β=0.020). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662893 ## rs11191580 (NT5C2) Source: https://orviva.ai/learn/snps/rs11191580 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical / lower): C allele associated with slightly decreased risk of Systolic blood pressure (OR=0.97). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Pallidum iron levels (R2* MRI) (OR=0.10). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551868 ## rs11191614 (NT5C2) Source: https://orviva.ai/learn/snps/rs11191614 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Educational attainment (years of education) (β=0.014). [GWAS Catalog] - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.016). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006442 ## rs111919672 (BLMH) Source: https://orviva.ai/learn/snps/rs111919672 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with increased Low density lipoprotein cholesterol levels (β=0.020). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239658 ## rs11196758 (ABLIM1) Source: https://orviva.ai/learn/snps/rs11196758 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Putamen iron levels (quantitative susceptibility mapping) (β=0.084). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of IDP SWI T2star right putamen (OR=0.12). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90003868 ## rs11204762 (PRUNE1) Source: https://orviva.ai/learn/snps/rs11204762 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Phospholipids in very large HDL (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.014). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008994 ## rs11205277 (SV2A - SF3B4) Source: https://orviva.ai/learn/snps/rs11205277 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Anthropometric traits (β=0.034). [GWAS Catalog] - **AA** (typical): A allele associated with increased Diastolic blood pressure (β=0.010). [GWAS Catalog] References: PMID:30166351; GWAS Catalog; GCST007485 ## rs11205303 (MTMR11) Source: https://orviva.ai/learn/snps/rs11205303 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.044). [GWAS Catalog] - **CC** (typical): C allele associated with increased Breast cancer (β=0.050). [GWAS Catalog] References: PMID:29059683; GWAS Catalog; GCST004988 ## rs112070444 (ZFAT-AS1, ZFAT) Source: https://orviva.ai/learn/snps/rs112070444 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.030). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.45). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs11207994 (DOCK7) Source: https://orviva.ai/learn/snps/rs11207994 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Phospholipids to Total Lipids in Small VLDL percentage (β=0.050). [GWAS Catalog] - **CC** (typical): C allele associated with increased Ratio of monounsaturated fatty acids to total fatty acids (β=0.055). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092929 ## rs11209838 (SCMH1-DT) Source: https://orviva.ai/learn/snps/rs11209838 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs11209948 (LINC02796) Source: https://orviva.ai/learn/snps/rs11209948 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Childhood body mass index (β=0.022). [GWAS Catalog] - **TT** (typical): T allele associated with increased Major depressive disorder (β=0.036). [GWAS Catalog] References: PMID:27479909; GWAS Catalog; GCST006041 ## rs11210887 (PTPRF) Source: https://orviva.ai/learn/snps/rs11210887 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Attention deficit hyperactivity disorder or cannabis use (OR=1.09). [GWAS Catalog] References: PMID:30679032; GWAS Catalog; GCST008810 ## rs11211480 (TAL1) Source: https://orviva.ai/learn/snps/rs11211480 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Drinks per week (β=0.010). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.024). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479521 ## rs11214013 (ALG9) Source: https://orviva.ai/learn/snps/rs11214013 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Cholesterol to Total Lipids in Large HDL percentage (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-hip index (β=0.026). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501135 ## rs112153300 (COL6A2) Source: https://orviva.ai/learn/snps/rs112153300 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.023). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Osteoarthritis (with total knee replacement) (OR=0.92). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566805 ## rs112162280 (PLCD3) Source: https://orviva.ai/learn/snps/rs112162280 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.023). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglyceride levels (β=0.012). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs11218343 (SORL1) Source: https://orviva.ai/learn/snps/rs11218343 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with slightly decreased risk of Alzheimer's disease (OR=0.84). [GWAS Catalog] - **TT** (high): T allele associated with substantially increased risk of Alzheimer's disease or educational attainment (pleiotropy) (OR=47.98). [GWAS Catalog] References: PMID:35379992; GWAS Catalog; GCST90027158 ## rs11218720 (GLULP3 - UBASH3B) Source: https://orviva.ai/learn/snps/rs11218720 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with increased Calcium levels (β=0.016). [GWAS Catalog] - **AA** (typical): A allele associated with increased High density lipoprotein cholesterol levels (β=0.025). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007140 ## rs1122171 (PITX1-AS1) Source: https://orviva.ai/learn/snps/rs1122171 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.015). [GWAS Catalog] - **TT** (typical): T allele associated with increased CST1 protein levels (β=0.059). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468893 ## rs1123285 (OTX2) Source: https://orviva.ai/learn/snps/rs1123285 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Drinks per week (β=0.007). [GWAS Catalog] - **CC** (increased): C allele associated with increased Educational attainment (years of education) (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs1123395 (LDB2) Source: https://orviva.ai/learn/snps/rs1123395 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Atrial fibrillation (β=0.019). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs112374545 (SMARCA4) Source: https://orviva.ai/learn/snps/rs112374545 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Low density lipoprotein cholesterol levels (OR=0.22). [GWAS Catalog] - **TT** (typical): T allele associated with increased Ratio of saturated fatty acids to total fatty acids (β=0.040). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007141 ## rs11240565 (NUCKS1 - RAB29) Source: https://orviva.ai/learn/snps/rs11240565 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased height (mean, inv-normal transformed) (β=0.050). [GWAS Catalog] - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.036). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475362 ## rs11243143 (RREB1) Source: https://orviva.ai/learn/snps/rs11243143 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Urate levels (UKB data field 30880) (β=0.032). [GWAS Catalog] - **GG** (increased): G allele associated with increased A body shape index (β=0.018). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012231 ## rs11245482 (CTBP2) Source: https://orviva.ai/learn/snps/rs11245482 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased High-density lipoprotein levels (β=0.011). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.010). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs11246574 (OR4A4P - OR4A3P) Source: https://orviva.ai/learn/snps/rs11246574 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased High density lipoprotein cholesterol levels (β=0.048). [GWAS Catalog] - **GG** (typical): G allele associated with increased Putamen iron levels (R2* MRI) (β=0.061). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019510 ## rs11249249 (MACO1) Source: https://orviva.ai/learn/snps/rs11249249 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased Linoleic acid percentage of total fatty acids (β=0.018). [GWAS Catalog] - **GG** (typical): G allele associated with increased Non-HDL cholesterol levels (β=0.030). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454486 ## rs11249913 (PPP1R3B-DT) Source: https://orviva.ai/learn/snps/rs11249913 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Systemic lupus erythematosus (MTAG) (β=0.078). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.018). [GWAS Catalog] References: PMID:36750564; GWAS Catalog; GCST90270940 ## rs112502960 (ZNF652-AS1, ZNF652) Source: https://orviva.ai/learn/snps/rs112502960 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.018). [GWAS Catalog] - **AA** (typical): A allele associated with increased Polyunsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs112519623 (SLC39A8) Source: https://orviva.ai/learn/snps/rs112519623 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Body mass index (β=0.033). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.34). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs112540634 (ILRUN) Source: https://orviva.ai/learn/snps/rs112540634 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Standing height (UKB data field 50) (β=0.040). [GWAS Catalog] - **CC** (typical): C allele associated with increased Heart failure (β=0.040). [GWAS Catalog] References: PMID:40038546; GWAS Catalog; GCST90726617 ## rs112584165 (CBFA2T3 - ACSF3) Source: https://orviva.ai/learn/snps/rs112584165 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (baseline) (β=0.045). [GWAS Catalog] - **GG** (elevated): G allele associated with moderately increased risk of Melanoma (OR=1.51). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs11263432 (LINC02953 - LINC02952) Source: https://orviva.ai/learn/snps/rs11263432 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with slightly decreased risk of Kidney cancer (OR=0.88). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.020). [GWAS Catalog] References: PMID:30575882; GWAS Catalog; GCST008733 ## rs11263445 (LINC02952 - LINC02747) Source: https://orviva.ai/learn/snps/rs11263445 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (baseline) (β=0.021). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Kidney cancer (OR=1.11). [GWAS Catalog] References: PMID:38671320; GWAS Catalog; GCST90320054 ## rs1126930 (DDN-AS1, PRKAG1) Source: https://orviva.ai/learn/snps/rs1126930 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Body mass index (β=0.035). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.62). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310294 ## rs112740904 (SWINGN) Source: https://orviva.ai/learn/snps/rs112740904 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglyceride levels (MTAG) (β=0.028). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.028). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179149 ## rs112771035 (ST3GAL4) Source: https://orviva.ai/learn/snps/rs112771035 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (typical): G allele associated with increased Low density lipoprotein cholesterol levels (β=0.063). [GWAS Catalog] - **CC** (typical / lower): C allele associated with slightly decreased risk of Transferrin N-glycan 27 levels (OR=0.82). [GWAS Catalog] References: PMID:35332118; GWAS Catalog; GCST90129371 ## rs112875651 (TRIB1AL) Source: https://orviva.ai/learn/snps/rs112875651 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Triglyceride levels (MTAG) (β=0.093). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-3 fatty acid levels (β=0.087). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092931 ## rs112881196 (SRD5A2 - LINC01946) Source: https://orviva.ai/learn/snps/rs112881196 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Urine X-24494 levels in chronic kidney disease (OR=0.45). [GWAS Catalog] - **CC** (typical / lower): C allele associated with slightly decreased risk of Youthful appearance (self-reported) (OR=0.94). [GWAS Catalog] References: PMID:37277652; GWAS Catalog; GCST90266742 ## rs1129555 (GPAM) Source: https://orviva.ai/learn/snps/rs1129555 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Low density lipoprotein cholesterol levels (β=0.046). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.013). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007141 ## rs1131017 (RPS26) Source: https://orviva.ai/learn/snps/rs1131017 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Cognitive performance (MTAG) (β=0.023). [GWAS Catalog] - **GG** (typical): G allele associated with increased Phospholipids to Total Lipids in Large HDL percentage (β=0.010). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006570 ## rs1132274 (RRBP1) Source: https://orviva.ai/learn/snps/rs1132274 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.015). [GWAS Catalog] - **CC** (typical): C allele associated with increased HDL cholesterol levels (β=0.022). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs11322783 (IFNL4) Source: https://orviva.ai/learn/snps/rs11322783 (imported from public databases, not individually reviewed; category: Drug response) - **GG** (typical): Genotype GG is associated with decreased response to ribavirin and sofosbuvir in people with Hepatitis C, Chronic as compared to genotypes G/TT + TT/TT. - **TT** (typical): Allele TT is associated with increased response to boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to allele G. References: PharmGKB ## rs1133400 (INPP5A) Source: https://orviva.ai/learn/snps/rs1133400 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.031). [GWAS Catalog] - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.018). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs113441031 (NQO1-DT) Source: https://orviva.ai/learn/snps/rs113441031 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.035). [GWAS Catalog] - **CC** (typical): C allele associated with increased Alcohol consumption (β=0.019). [GWAS Catalog] References: PMID:32193382; GWAS Catalog; GCST90133003 ## rs1135840 (CYP2D6) Source: https://orviva.ai/learn/snps/rs1135840 (curated, human-reviewed; category: Drug response; effect allele G) - **GG** (typical): CYP2D6 4180G>C (S486T) reference. Shared variant in *2 and many other haplotypes. - **GC / CG** (typical): CYP2D6 4180G>C heterozygous. - **CC** (typical): CYP2D6 4180 variant homozygous. References: CPIC; PharmVar ## rs113701136 (C19orf12 - CCNE1) Source: https://orviva.ai/learn/snps/rs113701136 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.022). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Breast cancer (OR=1.07). [GWAS Catalog] References: PMID:29058716; GWAS Catalog; GCST005077 ## rs113779084 (THSD7A) Source: https://orviva.ai/learn/snps/rs113779084 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with slightly decreased risk of Bipolar disorder (OR=0.93). [GWAS Catalog] - **AA** (increased): A allele associated with increased Educational attainment (years of education) (β=0.014). [GWAS Catalog] References: PMID:34002096; GWAS Catalog; GCST012465 ## rs113851554 (MEIS1) Source: https://orviva.ai/learn/snps/rs113851554 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical / lower): G allele associated with decreased risk of Sleep related movement disorders (PheCode 327.7) (OR=0.63). [GWAS Catalog] - **TT** (slightly elevated): T allele associated with slightly increased risk of Insomnia (OR=1.23). [GWAS Catalog] References: PMID:30804565; GWAS Catalog; GCST007988 ## rs113927489 (FAM163B) Source: https://orviva.ai/learn/snps/rs113927489 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Smoking cessation (β=0.039). [GWAS Catalog] - **CC** (typical): C allele associated with increased Chronic airway obstruction (PheCode 496) (β=0.073). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476027 ## rs113934718 (ATAD5) Source: https://orviva.ai/learn/snps/rs113934718 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.048). [GWAS Catalog] - **AA** (typical): A allele associated with increased Breast cancer (β=0.072). [GWAS Catalog] References: PMID:35831902; GWAS Catalog; GCST90131910 ## rs113953597 (LINC01381 - DNMT3A) Source: https://orviva.ai/learn/snps/rs113953597 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Childhood body mass index (β=0.041). [GWAS Catalog] - **AA** (typical): A allele associated with increased Breast cancer (β=0.045). [GWAS Catalog] References: PMID:29059683; GWAS Catalog; GCST004988 ## rs1139897 (RHOT2) Source: https://orviva.ai/learn/snps/rs1139897 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.013). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.011). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs1142345 (TPMT) Source: https://orviva.ai/learn/snps/rs1142345 (imported from public databases, not individually reviewed; category: Drug response) - **AA** (typical): Normal TPMT function at *3C position. - **AC** (increased): TPMT *3C carrier. Intermediate metabolizer. Reduced thiopurine dose recommended. - **CC** (increased): TPMT *3C homozygous. Poor metabolizer. Severely reduced thiopurine clearance. References: PharmGKB:3; Drug:cisplatin; Type:Efficacy ## rs114964731 (LINC00491 - PAM) Source: https://orviva.ai/learn/snps/rs114964731 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical / lower): A allele associated with decreased risk of Type 2 diabetes (OR=0.14). [GWAS Catalog] - **CC** (increased): C allele associated with increased Fluid intelligence score (baseline) (β=0.039). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565842 ## rs1150754 (TNXB) Source: https://orviva.ai/learn/snps/rs1150754 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (elevated): A allele associated with significantly increased risk of Systemic lupus erythematosus (OR=2.21). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.033). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012230 ## rs11508026 (CETP) Source: https://orviva.ai/learn/snps/rs11508026 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with increased Linoleic acid percentage of total fatty acids (β=0.031). [GWAS Catalog] - **CC** (typical): C allele associated with increased Metabolic syndrome (β=0.088). [GWAS Catalog] References: PMID:38201907; GWAS Catalog; GCST90454454 ## rs115246607 (PPIP5K2) Source: https://orviva.ai/learn/snps/rs115246607 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Type 2 diabetes (OR=0.16). [GWAS Catalog] - **TT** (increased): T allele associated with increased Hand grip strength (baseline) (β=0.019). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs11525445 (OR4C16 - OR4C11) Source: https://orviva.ai/learn/snps/rs11525445 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.013). [GWAS Catalog] - **TT** (typical): T allele associated with increased Systolic blood pressure (β=0.018). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018972 ## rs115445558 (ABCG8, ABCG5) Source: https://orviva.ai/learn/snps/rs115445558 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (typical): G allele associated with increased Free cholesterol levels in very small VLDL (β=0.076). [GWAS Catalog] - **CC** (typical): C allele associated with increased Omega-3 fatty acids levels (β=0.051). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90301959 ## rs115482652 (VEGFA - LINC02537) Source: https://orviva.ai/learn/snps/rs115482652 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.080). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (MTAG) (β=0.054). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs11549407 (HBB) Source: https://orviva.ai/learn/snps/rs11549407 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Total cholesterol levels (OR=0.43). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Iron deficiency anemias, unspecified or notdue to blood loss (PheCode 280.1) (OR=1.38). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479958 ## rs11550029 (NUDCD3) Source: https://orviva.ai/learn/snps/rs11550029 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.012). [GWAS Catalog] - **AA** (typical): A allele associated with increased Low density lipoprotein cholesterol levels (β=0.019). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs11554159 (IFI30) Source: https://orviva.ai/learn/snps/rs11554159 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Multiple sclerosis (OR=1.15). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (additive genetic model) (β=0.023). [GWAS Catalog] References: PMID:24076602; GWAS Catalog; GCST005531 ## rs1155641 (RN7SKP181 - LINC02253) Source: https://orviva.ai/learn/snps/rs1155641 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs11556924 (UBE2H-DT, ZC3HC1) Source: https://orviva.ai/learn/snps/rs11556924 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased Ischemic heart disease (PheCode 411) (β=0.052). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475929 ## rs11557049 (PDE7A) Source: https://orviva.ai/learn/snps/rs11557049 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.040). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.014). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs11571833 (BRCA2) Source: https://orviva.ai/learn/snps/rs11571833 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Lung cancer (conditioned on cigarettes per day) (OR=0.64). [GWAS Catalog] - **TT** (elevated): T allele associated with significantly increased risk of Lung cancer (OR=2.47). [GWAS Catalog] References: PMID:39366959; GWAS Catalog; GCST90455521 ## rs11578094 (THRAP3) Source: https://orviva.ai/learn/snps/rs11578094 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Atrial fibrillation (OR=1.03). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018959 ## rs11583680 (PCSK9) Source: https://orviva.ai/learn/snps/rs11583680 (imported from public databases, not individually reviewed; category: Drug response; effect allele C) - **CC** (typical): C allele associated with increased PCSK9 levels in statin-naive individuals (β=0.050). [GWAS Catalog] - **TT** (typical): T allele associated with increased Low density lipoprotein cholesterol levels (β=0.026). [GWAS Catalog] References: PMID:37989062; GWAS Catalog; GCST90428111 ## rs11584380 (TBX15) Source: https://orviva.ai/learn/snps/rs11584380 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.023). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist circumference adjusted for body mass index (β=0.023). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs11587399 (LINC02808 - HMGB1P45) Source: https://orviva.ai/learn/snps/rs11587399 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.011). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.011). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs11588850 (SNAP47) Source: https://orviva.ai/learn/snps/rs11588850 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Standing height (UKB data field 50) (β=0.029). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Thumb osteoarthritis (OR=0.87). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs1159619 (CENPW - MIR588) Source: https://orviva.ai/learn/snps/rs1159619 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Low-density lipoprotein levels (MTAG) (β=0.011). [GWAS Catalog] - **CC** (increased): C allele associated with increased Abdominal adipose tissue volumes (adjusted for BMI and height) (β=0.046). [GWAS Catalog] References: PMID:35773277; GWAS Catalog; GCST90205204 ## rs11596328 (SH3PXD2A) Source: https://orviva.ai/learn/snps/rs11596328 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with increased Atrial fibrillation (MTAG) (β=0.028). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.022). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs11598856 (NOLC1 - ELOVL3) Source: https://orviva.ai/learn/snps/rs11598856 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.014). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs11599236 (SORCS3) Source: https://orviva.ai/learn/snps/rs11599236 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Educational attainment (years of education) (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased Depressed affect (β=0.016). [GWAS Catalog] References: PMID:29942085; GWAS Catalog; GCST006475 ## rs11601507 (TRIM5) Source: https://orviva.ai/learn/snps/rs11601507 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Low density lipoprotein cholesterol levels (β=0.049). [GWAS Catalog] - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.016). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs11603334 (ARAP1) Source: https://orviva.ai/learn/snps/rs11603334 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Type 2 diabetes (PheCode 250.2) (β=0.063). [GWAS Catalog] - **AA** (increased): A allele associated with increased Fasting blood glucose (BMI interaction) (β=0.002). [GWAS Catalog] References: PMID:22581228; GWAS Catalog; GCST001527 ## rs11613352 (R3HDM2) Source: https://orviva.ai/learn/snps/rs11613352 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Triglycerides (β=0.040). [GWAS Catalog] - **TT** (typical): T allele associated with increased Linoleic acid to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501171 ## rs11616380 (LINC01080) Source: https://orviva.ai/learn/snps/rs11616380 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.076). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.013). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662911 ## rs11636917 (LINC02568 - USP3) Source: https://orviva.ai/learn/snps/rs11636917 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased triglyceride (mean, inv-norm transformed) (β=0.043). [GWAS Catalog] - **CC** (typical): C allele associated with increased Docosahexaenoic acid to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476435 ## rs11639856 (TNRC6A) Source: https://orviva.ai/learn/snps/rs11639856 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (increased): T allele associated with increased Body mass index (β=0.015). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Systolic blood pressure (OR=0.34). [GWAS Catalog] References: PMID:27618448; GWAS Catalog; GCST006228 ## rs11639988 (GPRC5B - GPR139) Source: https://orviva.ai/learn/snps/rs11639988 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.035). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-6 fatty acids levels (β=0.020). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs116401702 (HEYL) Source: https://orviva.ai/learn/snps/rs116401702 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased High density lipoprotein cholesterol levels (β=0.039). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.023). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019510 ## rs11641811 (TAT-AS1 - MARVELD3) Source: https://orviva.ai/learn/snps/rs11641811 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Cholesterol levels (UKB data field 30690) (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Morning person (OR=1.03). [GWAS Catalog] References: PMID:30696823; GWAS Catalog; GCST007565 ## rs11645550 (NPAP1L - GNPATP) Source: https://orviva.ai/learn/snps/rs11645550 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Insomnia (β=0.008). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Asthma or chronic rhinosinusitis (OR=1.03). [GWAS Catalog] References: PMID:41213931; GWAS Catalog; GCST90652529 ## rs1164598 (HS6ST3) Source: https://orviva.ai/learn/snps/rs1164598 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs116483731 (SPDL1) Source: https://orviva.ai/learn/snps/rs116483731 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.044). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Prostate cancer (OR=1.31). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs11655587 (IGF2BP1 - B4GALNT2P1) Source: https://orviva.ai/learn/snps/rs11655587 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.021). [GWAS Catalog] - **CC** (typical): C allele associated with increased Ischemic heart disease (PheCode 411) (β=0.040). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009004 ## rs11656215 (PEMT) Source: https://orviva.ai/learn/snps/rs11656215 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Triglycerides (β=0.020). [GWAS Catalog] - **CC** (increased): C allele associated with increased Hip index (β=0.016). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020026 ## rs11658786 (STARD3) Source: https://orviva.ai/learn/snps/rs11658786 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased HDL cholesterol levels (β=0.031). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.007). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs11659764 (TCF4 - LINC01415) Source: https://orviva.ai/learn/snps/rs11659764 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.032). [GWAS Catalog] - **AA** (typical): A allele associated with increased Urate levels (β=0.035). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs11662738 (DYM) Source: https://orviva.ai/learn/snps/rs11662738 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.026). [GWAS Catalog] - **TT** (typical): T allele associated with increased Low-density lipoprotein levels (MTAG) (β=0.009). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179148 ## rs11663816 (RNU4-17P - MC4R) Source: https://orviva.ai/learn/snps/rs11663816 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index in physically active individuals (β=0.057). [GWAS Catalog] - **TT** (typical): T allele associated with increased Urate levels (β=0.030). [GWAS Catalog] References: PMID:31578528; GWAS Catalog; GCST008971 ## rs11664106 (SMCHD1 - EMILIN2) Source: https://orviva.ai/learn/snps/rs11664106 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.015). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662893 ## rs11665070 (CELF4 - MIR4318) Source: https://orviva.ai/learn/snps/rs11665070 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.006). [GWAS Catalog] - **GG** (typical): G allele associated with increased Sensitivity to environmental stress and adversity (β=0.021). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs11665242 (DCC) Source: https://orviva.ai/learn/snps/rs11665242 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Educational attainment (MTAG) (β=0.015). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Schizophrenia (OR=1.06). [GWAS Catalog] References: PMID:33169155; GWAS Catalog; GCST011769 ## rs11666808 (IQCN) Source: https://orviva.ai/learn/snps/rs11666808 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-hip ratio (β=0.029). [GWAS Catalog] - **CC** (typical): C allele associated with increased Urate levels (UKB data field 30880) (β=0.011). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468107 ## rs11668399 (CYP2F2P - CYP2A6) Source: https://orviva.ai/learn/snps/rs11668399 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (increased): G allele associated with increased Cigarettes smoked per day (β=0.067). [GWAS Catalog] - **CC** (high): C allele associated with substantially increased risk of Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trim... (OR=6.37). [GWAS Catalog] References: PMID:27702941; GWAS Catalog; GCST003851 ## rs11672660 (GIPR) Source: https://orviva.ai/learn/snps/rs11672660 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.034). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Kidney stone disease (OR=1.08). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009003 ## rs1167796 (HIP1) Source: https://orviva.ai/learn/snps/rs1167796 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Educational attainment (β=0.012). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Systemic lupus erythematosus (OR=1.20). [GWAS Catalog] References: PMID:19838193; GWAS Catalog; GCST000507 ## rs1167827 (HIP1) Source: https://orviva.ai/learn/snps/rs1167827 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Body mass index (β=0.023). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Systolic blood pressure (OR=0.18). [GWAS Catalog] References: PMID:33230300; GWAS Catalog; GCST90292477 ## rs1167998 (DOCK7) Source: https://orviva.ai/learn/snps/rs1167998 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (typical): C allele associated with increased Total omega-3 fatty acid levels (β=0.071). [GWAS Catalog] - **AA** (typical): A allele associated with increased Mean diameter of VLDL particles (β=0.050). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302124 ## rs11682175 (EIF2S2P7 - ACTG1P22) Source: https://orviva.ai/learn/snps/rs11682175 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Depression (β=0.021). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sleep duration (β=0.018). [GWAS Catalog] References: PMID:30804565; GWAS Catalog; GCST007982 ## rs116843064 (ANGPTL4) Source: https://orviva.ai/learn/snps/rs116843064 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) (OR=0.46). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Omega-6 fatty acid percentage of total fatty acids (OR=0.18). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454484 ## rs11685299 (CUL3) Source: https://orviva.ai/learn/snps/rs11685299 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Schizophrenia (OR=1.07). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs116855232 (NUDT15) Source: https://orviva.ai/learn/snps/rs116855232 (imported from public databases, not individually reviewed; category: Drug response) - **CT** (typical): Genotype CT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC. - **T** (typical): Allele T is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C. - **TT** (typical): Genotype TT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT. - **CC** (typical): Normal NUDT15 function. Standard thiopurine dosing. References: PharmGKB ## rs116873087 (NAA25) Source: https://orviva.ai/learn/snps/rs116873087 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (slightly elevated): C allele associated with slightly increased risk of Alcohol consumption (OR=1.29). [GWAS Catalog] - **GG** (elevated): G allele associated with significantly increased risk of Gout (combined type) (OR=2.38). [GWAS Catalog] References: PMID:35121771; GWAS Catalog; GCST90104202 ## rs11688682 (LINC01101 - Y_RNA) Source: https://orviva.ai/learn/snps/rs11688682 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Type 2 diabetes (PheCode 250.2) (β=0.060). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs11689727 (DNMT3A) Source: https://orviva.ai/learn/snps/rs11689727 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.036). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Atrial fibrillation (OR=1.03). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662911 ## rs11689956 (AFF3) Source: https://orviva.ai/learn/snps/rs11689956 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Male-pattern baldness (β=0.025). [GWAS Catalog] - **TT** (typical): T allele associated with increased High-density lipoprotein levels (MTAG) (β=0.018). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179147 ## rs11690748 (FOXN2) Source: https://orviva.ai/learn/snps/rs11690748 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Drinks per week (β=0.007). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.006). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs1169081 (CFAP251) Source: https://orviva.ai/learn/snps/rs1169081 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (β=0.011). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.18). [GWAS Catalog] References: PMID:33230300; GWAS Catalog; GCST90000062 ## rs11693150 (MTCO1P54 - FAM117B) Source: https://orviva.ai/learn/snps/rs11693150 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **CC** (typical): C allele associated with increased Total cholesterol levels (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Polyunsaturated fatty acids (β=0.030). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302071 ## rs11694716 (MATN3) Source: https://orviva.ai/learn/snps/rs11694716 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with slightly decreased risk of Matrilin-3 level in Chronic kidney disease with hypertension and no diabetes ... (OR=0.85). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.007). [GWAS Catalog] References: PMID:35870639; GWAS Catalog; GCST90235236 ## rs11697662 (CHRNA4) Source: https://orviva.ai/learn/snps/rs11697662 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Cigarettes smoked per day (β=0.035). [GWAS Catalog] - **CC** (typical): C allele associated with increased Takes medication for Chronic lung diseases including COPD, Emphysema and Bron... (β=0.075). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479592 ## rs117026536 (LPL) Source: https://orviva.ai/learn/snps/rs117026536 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **TT** (typical / lower): T allele associated with decreased risk of Cholesteryl Esters to Total Lipids in Small LDL percentage (OR=0.12). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Ratio of monounsaturated fatty acids to total fatty acids (OR=0.19). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092929 ## rs117042741 (XRRA1) Source: https://orviva.ai/learn/snps/rs117042741 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Colorectal cancer (OR=0.23). [GWAS Catalog] - **CC** (increased): C allele associated with increased Hand grip strength (baseline) (β=0.028). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565845 ## rs117076050 (ZFAT - MIR30B) Source: https://orviva.ai/learn/snps/rs117076050 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.030). [GWAS Catalog] - **AA** (typical): A allele associated with increased Systolic blood pressure (MTAG) (β=0.024). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs11709077 (PPARG) Source: https://orviva.ai/learn/snps/rs11709077 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Type 2 diabetes (OR=1.14). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.019). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs11712165 (ARHGAP31) Source: https://orviva.ai/learn/snps/rs11712165 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **TT** (typical): T allele associated with increased Systemic lupus erythematosus (MTAG) (β=0.068). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Celiac disease (OR=1.12). [GWAS Catalog] References: PMID:30572963; GWAS Catalog; GCST009874 ## rs1171614 (SLC16A9) Source: https://orviva.ai/learn/snps/rs1171614 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Urate levels (UKB data field 30880) (β=0.052). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.032). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662911 ## rs1171617 (SLC16A9) Source: https://orviva.ai/learn/snps/rs1171617 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with increased Serum urate levels (β=0.076). [GWAS Catalog] - **GG** (increased): G allele associated with increased height (mean, inv-normal transformed) (β=0.064). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475362 ## rs11717383 (PPM1M - WDR82) Source: https://orviva.ai/learn/snps/rs11717383 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Schizophrenia (OR=1.06). [GWAS Catalog] - **TT** (high): T allele associated with substantially increased risk of General cognitive ability (OR=5.74). [GWAS Catalog] References: PMID:26198764; GWAS Catalog; GCST003048 ## rs117188729 (KANK3 - ANGPTL4) Source: https://orviva.ai/learn/snps/rs117188729 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Triglycerides in very small VLDL (UKB data field 23522) (β=0.087). [GWAS Catalog] - **TT** (typical): T allele associated with increased Monounsaturated fatty acid levels (β=0.067). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269619 ## rs11720108 (ADCY5) Source: https://orviva.ai/learn/snps/rs11720108 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Diabetes mellitus (PheCode 250) (OR=0.11). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.008). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475657 ## rs11720703 (FOXP1) Source: https://orviva.ai/learn/snps/rs11720703 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.013). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Smoking initiation (OR=1.02). [GWAS Catalog] References: PMID:33082346; GWAS Catalog; GCST011703 ## rs117208012 (AXIN1) Source: https://orviva.ai/learn/snps/rs117208012 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.075). [GWAS Catalog] - **TT** (increased): T allele associated with increased Male-pattern baldness (β=0.062). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs117209788 (RILPL1) Source: https://orviva.ai/learn/snps/rs117209788 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-hip index (β=0.042). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglycerides to total lipids ratio in very large HDL (β=0.045). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90093015 ## rs11721038 (MECOM) Source: https://orviva.ai/learn/snps/rs11721038 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Diastolic blood pressure (OR=0.30). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Systolic blood pressure (BMI adjusted) (OR=0.89). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs117233107 (HSPA8P5 - CCND2-AS1) Source: https://orviva.ai/learn/snps/rs117233107 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Type 2 diabetes (OR=0.33). [GWAS Catalog] - **AA** (typical): A allele associated with increased Monounsaturated fatty acid levels (β=0.060). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs11724804 (DGKQ) Source: https://orviva.ai/learn/snps/rs11724804 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Waist-hip ratio (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with increased Systemic lupus erythematosus (MTAG) (β=0.078). [GWAS Catalog] References: PMID:36750564; GWAS Catalog; GCST90270940 ## rs117255962 (RNF24) Source: https://orviva.ai/learn/snps/rs117255962 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical / lower): T allele associated with decreased risk of Pallidum iron levels (quantitative susceptibility mapping) (OR=0.36). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of IDP SWI T2star left pallidum (OR=0.27). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90003869 ## rs11727676 (HHIP) Source: https://orviva.ai/learn/snps/rs11727676 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Waist circumference adjusted for body mass index (β=0.048). [GWAS Catalog] - **TT** (typical): T allele associated with increased high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) (β=0.039). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475356 ## rs11734408 (PPARGC1A) Source: https://orviva.ai/learn/snps/rs11734408 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.008). [GWAS Catalog] - **AA** (typical): A allele associated with increased QT interval (β=0.023). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs1173727 (NPR3 - LINC02120) Source: https://orviva.ai/learn/snps/rs1173727 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased What is your height? (cm, inv-normal transformed) (β=0.080). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.55). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310294 ## rs11737560 (MRPL42P1 - USP53) Source: https://orviva.ai/learn/snps/rs11737560 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.022). [GWAS Catalog] - **CC** (typical): C allele associated with increased Putamen iron levels (R2* MRI) (β=0.056). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551870 ## rs11743851 (CDC42SE2) Source: https://orviva.ai/learn/snps/rs11743851 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with marginally increased risk of Crohn's disease (OR=1.15). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (baseline) (β=0.015). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs117446263 (SLC22A3) Source: https://orviva.ai/learn/snps/rs117446263 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Low density lipoprotein cholesterol levels (β=0.058). [GWAS Catalog] - **GG** (typical): G allele associated with increased Monounsaturated fatty acid levels (β=0.077). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092928 ## rs117488242 (AKR1C4) Source: https://orviva.ai/learn/snps/rs117488242 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Cholesterol in Small HDL (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Saturated fatty acid levels (β=0.041). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501234 ## rs11749783 (ANKRD31 - HMGCR) Source: https://orviva.ai/learn/snps/rs11749783 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Cholesteryl esters in medium VLDL (UKB data field 23506) (β=0.062). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total fatty acids (β=0.044). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269603 ## rs11754773 (ILRUN) Source: https://orviva.ai/learn/snps/rs11754773 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased total cholesterol (mean, inv-norm transformed) (β=0.056). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.035). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476424 ## rs11755393 (BLTP3A) Source: https://orviva.ai/learn/snps/rs11755393 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Body mass index (β=0.022). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Systemic lupus erythematosus (OR=0.87). [GWAS Catalog] References: PMID:33493351; GWAS Catalog; GCST011493 ## rs11755689 (HLA-DRB1 - HLA-DQA1) Source: https://orviva.ai/learn/snps/rs11755689 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Cholesteryl Esters in Large VLDL (β=0.040). [GWAS Catalog] - **AA** (typical): A allele associated with increased Polyunsaturated fatty acid levels (β=0.042). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092939 ## rs117564322 (KCNH2 - NOS3) Source: https://orviva.ai/learn/snps/rs117564322 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.65). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.024). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132904 ## rs11759026 (CENPW - MIR588) Source: https://orviva.ai/learn/snps/rs11759026 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.068). [GWAS Catalog] - **AA** (increased): A allele associated with increased Educational attainment (years of education) (β=0.010). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs117623631 (LIPG) Source: https://orviva.ai/learn/snps/rs117623631 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of High density lipoprotein cholesterol levels (OR=0.44). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Polyunsaturated fatty acid levels (OR=0.44). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092939 ## rs11770283 (HIPK2) Source: https://orviva.ai/learn/snps/rs11770283 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Height (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Hypothyroidism (OR=1.06). [GWAS Catalog] References: PMID:39067062; GWAS Catalog; GCST90319320 ## rs11771799 (PILRB, STAG3L5P-PVRIG2P-PILRB) Source: https://orviva.ai/learn/snps/rs11771799 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (reduced): C allele associated with decreased risk of Histatin-1 levels (HTN1.10608.9.3) (OR=0.48). [GWAS Catalog] - **TT** (typical): T allele associated with increased Electrocardiogram morphology (amplitude at temporal datapoints) (β=0.044). [GWAS Catalog] References: PMID:32916098; GWAS Catalog; GCST010796 ## rs1177762 (MARK2P11 - LINC02227) Source: https://orviva.ai/learn/snps/rs1177762 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs1177764 (NPR3 - LINC02120) Source: https://orviva.ai/learn/snps/rs1177764 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Systolic blood pressure (β=0.030). [GWAS Catalog] - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.029). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018972 ## rs1177765 (NPR3 - LINC02120) Source: https://orviva.ai/learn/snps/rs1177765 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.022). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.47). [GWAS Catalog] References: PMID:30487518; GWAS Catalog; GCST007703 ## rs11778040 (GULOP) Source: https://orviva.ai/learn/snps/rs11778040 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.025). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Schizophrenia (OR=1.07). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs117793008 (C10orf95-AS1) Source: https://orviva.ai/learn/snps/rs117793008 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Free cholesterol in small LDL (β=0.040). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (baseline) (β=0.014). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs117799466 (LPCAT4) Source: https://orviva.ai/learn/snps/rs117799466 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Educational attainment (years of education) (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with increased Alcohol consumption (β=0.014). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006442 ## rs11780471 (CHRNA2 - EPHX2) Source: https://orviva.ai/learn/snps/rs11780471 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.038). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Lung cancer (OR=1.15). [GWAS Catalog] References: PMID:28604730; GWAS Catalog; GCST004748 ## rs11783093 (GULOP) Source: https://orviva.ai/learn/snps/rs11783093 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.028). [GWAS Catalog] - **CC** (typical): C allele associated with increased Chronic airway obstruction (PheCode 496) (β=0.081). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476027 ## rs11786992 (ESRP1) Source: https://orviva.ai/learn/snps/rs11786992 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.055). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.010). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs117870289 (ERG) Source: https://orviva.ai/learn/snps/rs117870289 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.63). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.029). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs1178947 (FZD9) Source: https://orviva.ai/learn/snps/rs1178947 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.008). [GWAS Catalog] - **TT** (typical): T allele associated with increased Free cholesterol levels in HDL (β=0.026). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092824 ## rs11789898 (BRD3) Source: https://orviva.ai/learn/snps/rs11789898 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased height (minimum, inv-normal transformed) (β=0.060). [GWAS Catalog] - **TT** (typical): T allele associated with increased Colorectal cancer (β=0.053). [GWAS Catalog] References: PMID:36539618; GWAS Catalog; GCST90129505 ## rs11793831 (LINC03142) Source: https://orviva.ai/learn/snps/rs11793831 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Cognitive performance (MTAG) (β=0.031). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.027). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs118012224 (HMGA1) Source: https://orviva.ai/learn/snps/rs118012224 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.040). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Height (OR=0.50). [GWAS Catalog] References: PMID:34054925; GWAS Catalog; GCST011972 ## rs11801229 (LRRN2) Source: https://orviva.ai/learn/snps/rs11801229 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs118086960 (CFL1) Source: https://orviva.ai/learn/snps/rs118086960 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (baseline) (β=0.014). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Psoriasis (OR=1.12). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs1182188 (GNA12) Source: https://orviva.ai/learn/snps/rs1182188 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with marginally increased risk of Ulcerative colitis (OR=1.11). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.045). [GWAS Catalog] References: PMID:26192919; GWAS Catalog; GCST003045 ## rs11848254 (UNC79) Source: https://orviva.ai/learn/snps/rs11848254 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:38538606; GWAS Catalog; GCST90428119 ## rs11852372 (HYKK) Source: https://orviva.ai/learn/snps/rs11852372 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Cigarettes smoked per day (β=0.098). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heart failure (β=0.028). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243987 ## rs11854242 (ALDH1A2) Source: https://orviva.ai/learn/snps/rs11854242 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Phospholipid levels in very small VLDL (β=0.082). [GWAS Catalog] - **TT** (typical): T allele associated with increased Polyunsaturated fatty acids levels (UKB data field 23446) (β=0.046). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90093036 ## rs11854318 (ALDH1A2) Source: https://orviva.ai/learn/snps/rs11854318 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Cholesteryl esters to total lipids ratio in small HDL (β=0.084). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total fatty acids levels (UKB data field 23442) (β=0.041). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269539 ## rs11865749 (WDR90 - RHOT2) Source: https://orviva.ai/learn/snps/rs11865749 (imported from public databases, not individually reviewed; category: Drug response; effect allele G) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.014). [GWAS Catalog] - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.017). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428446 ## rs11866219 (CYB5B - NFAT5) Source: https://orviva.ai/learn/snps/rs11866219 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (β=0.019). [GWAS Catalog] - **CC** (typical): C allele associated with increased Cholelithiasis (β=0.048). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009003 ## rs1187115 (KRT18P9 - CYCSP55) Source: https://orviva.ai/learn/snps/rs1187115 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased Calcium levels (β=0.043). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Height (OR=0.45). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018951 ## rs11872397 (ZNF407) Source: https://orviva.ai/learn/snps/rs11872397 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs11874040 (SETBP1) Source: https://orviva.ai/learn/snps/rs11874040 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Systolic blood pressure (OR=0.24). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.013). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310294 ## rs11880992 (DOT1L) Source: https://orviva.ai/learn/snps/rs11880992 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.033). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.017). [GWAS Catalog] References: PMID:25282103; GWAS Catalog; GCST002647 ## rs11881222 (IFNL3) Source: https://orviva.ai/learn/snps/rs11881222 (imported from public databases, not individually reviewed; category: Drug response) - **G** (typical): Allele G is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to allele A. - **AA** (typical): Genotype AA is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype AG. References: PharmGKB ## rs11887534 (ABCG8) Source: https://orviva.ai/learn/snps/rs11887534 (curated, human-reviewed; category: Health risk; effect allele C) - **CC** (high): ABCG8 D19H homozygous. Significantly increased gallstone risk (2-3x). - **CG / GC** (elevated): ABCG8 D19H carrier. Increased gallstone risk. - **GG** (typical / lower): Typical gallstone risk. References: PMID:17632509; GWAS Catalog ## rs11899888 (EFEMP1) Source: https://orviva.ai/learn/snps/rs11899888 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (baseline) (β=0.035). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Diastolic blood pressure (OR=0.25). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs11926707 (PTH1R, MYL3) Source: https://orviva.ai/learn/snps/rs11926707 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.021). [GWAS Catalog] - **CC** (typical): C allele associated with increased HDL cholesterol (β=0.015). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018956 ## rs11929253 (LINC01214) Source: https://orviva.ai/learn/snps/rs11929253 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.027). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hip index (β=0.025). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020026 ## rs11933087 (HHIP - ANAPC10) Source: https://orviva.ai/learn/snps/rs11933087 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.15). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.012). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs1193510 (RSRC1) Source: https://orviva.ai/learn/snps/rs1193510 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (increased): A allele associated with increased height (mean, inv-normal transformed) (β=0.030). [GWAS Catalog] - **GG** (typical): G allele associated with increased Drinks per week (β=0.007). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs11940694 (KLB) Source: https://orviva.ai/learn/snps/rs11940694 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Drinks per week (β=0.024). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Gout (OR=0.96). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs11949379 (TNPO1-DT) Source: https://orviva.ai/learn/snps/rs11949379 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Triglycerides in small HDL (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Insomnia (β=0.006). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131901 ## rs11961853 (UBQLN1P1 - MICC) Source: https://orviva.ai/learn/snps/rs11961853 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Childhood body mass index (β=0.025). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Psoriasis (OR=0.13). [GWAS Catalog] References: PMID:39885523; GWAS Catalog; GCST90565134 ## rs11981566 (CYP3A54P - FOXK1) Source: https://orviva.ai/learn/snps/rs11981566 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Serum uric acid levels (β=0.014). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hand grip strength (baseline) (β=0.010). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018977 ## rs11986122 (MSRA) Source: https://orviva.ai/learn/snps/rs11986122 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **CC** (typical): C allele associated with increased Cholesteryl esters to total lipids ratio in medium VLDL (β=0.033). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-hip index (β=0.022). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012228 ## rs11998678 (OR7E161P - DEFB136) Source: https://orviva.ai/learn/snps/rs11998678 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Systolic blood pressure (MTAG) (β=0.016). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.017). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs12003380 (CNTLN) Source: https://orviva.ai/learn/snps/rs12003380 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Insomnia (β=0.006). [GWAS Catalog] - **GG** (typical): G allele associated with increased Depression (β=0.017). [GWAS Catalog] References: PMID:37464041; GWAS Catalog; GCST90319327 ## rs12034347 (WARS2-IT1, WARS2) Source: https://orviva.ai/learn/snps/rs12034347 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.024). [GWAS Catalog] - **TT** (typical): T allele associated with increased Electrocardiogram morphology (amplitude at temporal datapoints) (β=0.041). [GWAS Catalog] References: PMID:32916098; GWAS Catalog; GCST010796 ## rs12038119 (WNT2B) Source: https://orviva.ai/learn/snps/rs12038119 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Mean arterial pressure (BMI adjusted) (OR=0.66). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total cholesterol levels (β=0.013). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662895 ## rs12045101 (GSTM5) Source: https://orviva.ai/learn/snps/rs12045101 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased HDL cholesterol levels (β=0.015). [GWAS Catalog] - **TT** (typical): T allele associated with increased Saturated fatty acid percentage of total fatty acids (β=0.023). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454485 ## rs12047271 (COLGALT2 - TSEN15) Source: https://orviva.ai/learn/snps/rs12047271 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.029). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Osteoarthritis of the hip or knee (with total joint replacement) (OR=1.06). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566804 ## rs12048743 (DSTYK) Source: https://orviva.ai/learn/snps/rs12048743 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.032). [GWAS Catalog] - **CC** (typical): C allele associated with increased Substantia nigra iron levels (quantitative susceptibility mapping) (β=0.041). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551871 ## rs12051698 (BAIAP2) Source: https://orviva.ai/learn/snps/rs12051698 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Height (standard GWA) (OR=0.12). [GWAS Catalog] - **CC** (typical): C allele associated with increased Electrocardiogram morphology (amplitude at temporal datapoints) (β=0.032). [GWAS Catalog] References: PMID:37106081; GWAS Catalog; GCST90267284 ## rs12056034 (BAZ1B) Source: https://orviva.ai/learn/snps/rs12056034 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Metabolic syndrome (β=0.097). [GWAS Catalog] - **AA** (typical): A allele associated with increased Degree of unsaturation (β=0.036). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092994 ## rs12065553 (HMGB1P18 - HNRNPA1P64) Source: https://orviva.ai/learn/snps/rs12065553 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (β=0.013). [GWAS Catalog] - **GG** (typical): G allele associated with increased Major depressive disorder (β=0.031). [GWAS Catalog] References: PMID:39375568; GWAS Catalog; GCST90446645 ## rs12076366 (COL24A1) Source: https://orviva.ai/learn/snps/rs12076366 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.016). [GWAS Catalog] - **TT** (typical): T allele associated with increased Glaucoma (β=0.062). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs12078363 (TGFB2) Source: https://orviva.ai/learn/snps/rs12078363 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased diastolic blood pressure (DBP, mean, inv-normal transformed) (β=0.028). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Diastolic blood pressure (BMI adjusted) (OR=0.33). [GWAS Catalog] References: PMID:39048560; GWAS Catalog; GCST90335165 ## rs12089815 (BARHL2 - LINC02609) Source: https://orviva.ai/learn/snps/rs12089815 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Educational attainment (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.014). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs12123821 (CCDST) Source: https://orviva.ai/learn/snps/rs12123821 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (slightly elevated): T allele associated with slightly increased risk of Atopic dermatitis (OR=1.27). [GWAS Catalog] - **CC** (typical): C allele associated with increased Serum 25-Hydroxyvitamin D levels (conditioned on BMI) (β=0.077). [GWAS Catalog] References: PMID:32242144; GWAS Catalog; GCST90000616 ## rs12127789 (NEGR1) Source: https://orviva.ai/learn/snps/rs12127789 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased Drinks per week (β=0.011). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.018). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs12129705 (PHGDH, ZNF697) Source: https://orviva.ai/learn/snps/rs12129705 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (increased): T allele associated with increased Standing height (UKB data field 50) (β=0.023). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Osteoarthritis of the hip or knee (OR=1.04). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566799 ## rs12139120 (COL11A1) Source: https://orviva.ai/learn/snps/rs12139120 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.031). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Osteoarthritis of the hip or knee (OR=1.04). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566799 ## rs12140153 (PATJ) Source: https://orviva.ai/learn/snps/rs12140153 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (β=0.033). [GWAS Catalog] - **TT** (typical): T allele associated with increased Concentration of very large HDL particles (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501301 ## rs12140293 (DENND1B - C1orf53) Source: https://orviva.ai/learn/snps/rs12140293 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs12143164 (RPL21P24 - ATP6V0E1P4) Source: https://orviva.ai/learn/snps/rs12143164 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.011). [GWAS Catalog] - **TT** (typical): T allele associated with increased Systolic blood pressure (β=0.008). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662908 ## rs1214761 (ZNF318 - ABCC10) Source: https://orviva.ai/learn/snps/rs1214761 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased systolic blood pressure (SBP, mean, inv-normal transformed) (β=0.040). [GWAS Catalog] - **GG** (typical): G allele associated with increased Calcium levels (β=0.001). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476403 ## rs12148239 (ADAMTSL3) Source: https://orviva.ai/learn/snps/rs12148239 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Height (β=0.030). [GWAS Catalog] - **TT** (typical): T allele associated with increased Adiposity (multivariate analysis) (β=0.014). [GWAS Catalog] References: PMID:40796553; GWAS Catalog; GCST90624107 ## rs12149832 (FTO) Source: https://orviva.ai/learn/snps/rs12149832 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Takes medication for high cholesterol? (β=0.049). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (SNP x SNP interaction) (β=0.073). [GWAS Catalog] References: PMID:22344221; GWAS Catalog; GCST001416 ## rs12150284 (GAS7) Source: https://orviva.ai/learn/snps/rs12150284 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Glaucoma (β=0.087). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.005). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475869 ## rs12150914 (TMEM160 - ZC3H4) Source: https://orviva.ai/learn/snps/rs12150914 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased HDL cholesterol levels (β=0.015). [GWAS Catalog] - **CC** (typical): C allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs12160491 (TRIOBP - H1-0) Source: https://orviva.ai/learn/snps/rs12160491 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Osteoarthritis (with total hip replacement) (OR=0.93). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs121908120 (WNT10A) Source: https://orviva.ai/learn/snps/rs121908120 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (reduced): A allele associated with decreased risk of CST6 protein levels (OR=0.14). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Youthful appearance (self-reported) (OR=1.09). [GWAS Catalog] References: PMID:32339537; GWAS Catalog; GCST011011 ## rs121918166 (OCA2) Source: https://orviva.ai/learn/snps/rs121918166 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (high): T allele associated with substantially increased risk of Blond vs. brown/black hair color (OR=5.94). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Melanomas of skin (PheCode 172.11) (OR=0.61). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479793 ## rs12194023 (CAHM) Source: https://orviva.ai/learn/snps/rs12194023 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs1220128 (ACVR1C - ACVR1) Source: https://orviva.ai/learn/snps/rs1220128 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Diastolic blood pressure (OR=0.18). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.024). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs12203592 (IRF4) Source: https://orviva.ai/learn/snps/rs12203592 (curated, human-reviewed; category: Ancestry; effect allele T) - **TT** (typical / lower): IRF4 variant. Strong association with blue eyes, blond hair, fair skin, and freckling in Europeans. - **CT / TC** (typical / lower): IRF4 carrier. Lighter pigmentation tendency. - **CC** (typical / lower): Ancestral IRF4 variant. References: PMID:18488028; 1000 Genomes ## rs12206651 (L3MBTL3) Source: https://orviva.ai/learn/snps/rs12206651 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.025). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglycerides to total lipids ratio in small HDL (β=0.027). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs12206717 (TULP4) Source: https://orviva.ai/learn/snps/rs12206717 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.047). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.029). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs12208105 (PDE7B) Source: https://orviva.ai/learn/snps/rs12208105 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Standing height (UKB data field 50) (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.013). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs12208357 (SLC22A1) Source: https://orviva.ai/learn/snps/rs12208357 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Plasma isobutyrylcarnitine (C4) levels in chronic kidney disease (OR=0.42). [GWAS Catalog] - **CC** (typical): C allele associated with increased Total fatty acid levels (β=0.054). [GWAS Catalog] References: PMID:37277652; GWAS Catalog; GCST90265402 ## rs12212322 (HIVEP2) Source: https://orviva.ai/learn/snps/rs12212322 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.011). [GWAS Catalog] - **AA** (typical): A allele associated with increased High-density lipoprotein levels (β=0.019). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662894 ## rs12225683 (OR4A44P - ANKRD33BP2) Source: https://orviva.ai/learn/snps/rs12225683 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (increased): T allele associated with increased Height (baseline) (β=0.012). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Systolic blood pressure (OR=0.34). [GWAS Catalog] References: PMID:30578418; GWAS Catalog; GCST007267 ## rs1222925 (XRCC6P1 - RPL17P34) Source: https://orviva.ai/learn/snps/rs1222925 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Triglyceride levels (MTAG) (β=0.019). [GWAS Catalog] - **CC** (increased): C allele associated with increased height (mean, inv-normal transformed) (β=0.033). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479635 ## rs12229654 (MYL2) Source: https://orviva.ai/learn/snps/rs12229654 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (elevated): G allele associated with significantly increased risk of Alcohol consumption (drinkers vs non-drinkers) (OR=2.31). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Atrial fibrillation (OR=0.25). [GWAS Catalog] References: PMID:40645996; GWAS Catalog; GCST90624411 ## rs12230272 (NCOR2 - SCARB1) Source: https://orviva.ai/learn/snps/rs12230272 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.005). [GWAS Catalog] - **AA** (typical): A allele associated with increased Cholesteryl ester levels in HDL (β=0.031). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092823 ## rs12241932 (MPP7) Source: https://orviva.ai/learn/snps/rs12241932 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.034). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.005). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs12245585 (VTI1A) Source: https://orviva.ai/learn/snps/rs12245585 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.011). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs12248560 (CYP2C19) Source: https://orviva.ai/learn/snps/rs12248560 (curated, human-reviewed; category: Drug response; effect allele T) - **TT** (increased): CYP2C19*17 homozygous ultra-rapid metabolizer. Increased clopidogrel activation; may increase bleeding risk. - **CT / TC** (increased): CYP2C19*17 carrier. Rapid metabolizer; enhanced drug activation. - **CC** (typical): Normal CYP2C19 metabolizer status. References: CPIC; PMID:21716271; PharmGKB ## rs12253527 (MLLT10) Source: https://orviva.ai/learn/snps/rs12253527 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (increased): G allele associated with increased Adult body size (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with increased Calcium levels (UKB data field 30680) (β=0.015). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468065 ## rs12260436 (CNNM2) Source: https://orviva.ai/learn/snps/rs12260436 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased magnesium (Mg, minimum, inv-norm transformed) (β=0.028). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Migraine (OR=1.04). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479680 ## rs12263369 (CYP26C1) Source: https://orviva.ai/learn/snps/rs12263369 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Free Cholesterol to Total Lipids in Very Large HDL percentage (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Saturated fatty acid percentage of total fatty acids (β=0.018). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501299 ## rs12272004 (LINC02702 - BUD13) Source: https://orviva.ai/learn/snps/rs12272004 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of LDL cholesterol (OR=0.18). [GWAS Catalog] - **AA** (typical): A allele associated with increased Carotenoid and tocopherol levels (β=0.070). [GWAS Catalog] References: PMID:19060911; GWAS Catalog; GCST000282 ## rs12273435 (IGSF9B) Source: https://orviva.ai/learn/snps/rs12273435 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (β=0.014). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs1228024 (NUP160 - PTPRJ) Source: https://orviva.ai/learn/snps/rs1228024 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (typical / lower): A allele associated with slightly decreased risk of Osteoarthritis (hip) (OR=0.96). [GWAS Catalog] - **CC** (typical): C allele associated with increased Caffeine consumption from coffee or tea (β=0.014). [GWAS Catalog] References: PMID:33287642; GWAS Catalog; GCST011126 ## rs1229492 (HGF - CACNA2D1) Source: https://orviva.ai/learn/snps/rs1229492 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglycerides in small VLDL (β=0.020). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs12297948 (CAPZA3 - RPL7P6) Source: https://orviva.ai/learn/snps/rs12297948 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.006). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs1229984 (ADH1B) Source: https://orviva.ai/learn/snps/rs1229984 (curated, human-reviewed; category: Trait; effect allele T) - **TT** (typical / lower): ADH1B*2 homozygous. Rapid alcohol to acetaldehyde conversion; protective against alcoholism. Very common in East Asian populations. - **CT / TC** (typical / lower): ADH1B*2 carrier. Faster alcohol metabolism; reduced alcoholism risk. - **CC** (typical / lower): Normal alcohol dehydrogenase activity. References: PMID:18385739; OMIM:103720 ## rs12317268 (SLCO1B1) Source: https://orviva.ai/learn/snps/rs12317268 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with slightly decreased risk of Urinary metabolite levels in chronic kidney disease (OR=0.98). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum 25-Hydroxyvitamin D levels (conditioned on BMI) (β=0.021). [GWAS Catalog] References: PMID:31959995; GWAS Catalog; GCST009733 ## rs12325817 (PEMT) Source: https://orviva.ai/learn/snps/rs12325817 (curated, human-reviewed; category: Nutrition; effect allele C) - **CC** (increased): PEMT variant homozygous. Increased dietary choline requirement; risk of choline deficiency on low-choline diets. - **GC / CG** (typical): Moderately increased choline needs. - **GG** (typical): Normal choline metabolism. References: PMID:16702348 ## rs1232834 (ZNF366 - TNPO1-DT) Source: https://orviva.ai/learn/snps/rs1232834 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.011). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.017). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245845 ## rs1233578 (RPSAP2 - NOP56P1) Source: https://orviva.ai/learn/snps/rs1233578 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Fluid intelligence score (baseline) (β=0.033). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Asthma (OR=1.06). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565842 ## rs12340775 (MPDZ) Source: https://orviva.ai/learn/snps/rs12340775 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.043). [GWAS Catalog] - **AA** (increased): A allele associated with increased Male-pattern baldness (β=0.068). [GWAS Catalog] References: PMID:30573740; GWAS Catalog; GCST007020 ## rs12350739 (BNC2 - RN7SL720P) Source: https://orviva.ai/learn/snps/rs12350739 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Skin cancer (β=0.095). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hair color (β=0.038). [GWAS Catalog] References: PMID:29662168; GWAS Catalog; GCST006075 ## rs12354253 (FAF1) Source: https://orviva.ai/learn/snps/rs12354253 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.034). [GWAS Catalog] - **AA** (typical): A allele associated with increased Free Cholesterol to Total Lipids in Large LDL percentage (β=0.030). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs12357321 (MIR1915HG - SKIDA1) Source: https://orviva.ai/learn/snps/rs12357321 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Osteoarthritis (MTAG) (β=0.013). [GWAS Catalog] References: PMID:40262193; GWAS Catalog; GCST90570208 ## rs12357890 (CRTAC1) Source: https://orviva.ai/learn/snps/rs12357890 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (increased): A allele associated with increased Adult body size (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501219 ## rs12364432 (NUP160 - PTPRJ) Source: https://orviva.ai/learn/snps/rs12364432 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total esterified cholesterol levels (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501276 ## rs12369443 (PDE3A) Source: https://orviva.ai/learn/snps/rs12369443 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Concentration of very large HDL particles (β=0.028). [GWAS Catalog] - **GG** (typical): G allele associated with increased Calcium levels (β=0.002). [GWAS Catalog] References: PMID:33887147; GWAS Catalog; GCST012398 ## rs12380852 (QSOX2) Source: https://orviva.ai/learn/snps/rs12380852 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.038). [GWAS Catalog] - **TT** (typical): T allele associated with increased Systolic blood pressure (β=0.012). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662886 ## rs1239948 (DLEU7, DLEU1) Source: https://orviva.ai/learn/snps/rs1239948 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.029). [GWAS Catalog] - **TT** (typical): T allele associated with increased Cholesterol esters in very large HDL (β=0.010). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs12405515 (DNM3, PIGC) Source: https://orviva.ai/learn/snps/rs12405515 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Hip index (β=0.034). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.15). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs12405634 (RSL24D1P4 - SEPTIN14P21) Source: https://orviva.ai/learn/snps/rs12405634 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Leptin levels in overweight individuals (OR=0.31). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Body mass index (OR=0.25). [GWAS Catalog] References: PMID:34620218; GWAS Catalog; GCST90091177 ## rs12408576 (CTPS1) Source: https://orviva.ai/learn/snps/rs12408576 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.026). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total body bone mineral density (MTAG) (β=0.030). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs12414028 (NT5C2) Source: https://orviva.ai/learn/snps/rs12414028 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.53). [GWAS Catalog] - **TT** (typical): T allele associated with increased Substantia nigra iron levels (R2* MRI) (β=0.093). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551872 ## rs12414777 (CNNM2) Source: https://orviva.ai/learn/snps/rs12414777 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased magnesium (Mg, maximum, inv-norm transformed) (β=0.032). [GWAS Catalog] - **TT** (typical): T allele associated with increased Coronary artery disease (β=0.055). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479678 ## rs12420198 (OR5AQ1P - OR5J1P) Source: https://orviva.ai/learn/snps/rs12420198 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Cholesterol levels in very large HDL (β=0.030). [GWAS Catalog] - **AA** (typical): A allele associated with increased Putamen iron levels (R2* MRI) (β=0.058). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501294 ## rs12421055 (UBASH3B) Source: https://orviva.ai/learn/snps/rs12421055 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Educational attainment (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Systolic blood pressure (β=0.013). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018972 ## rs12422552 (GNAI2P1 - RPL30P11) Source: https://orviva.ai/learn/snps/rs12422552 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **CC** (typical): C allele associated with marginally increased risk of Breast cancer (OR=1.06). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.012). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs12422600 (HOXC4) Source: https://orviva.ai/learn/snps/rs12422600 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist circumference adjusted for body mass index (β=0.031). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.013). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012226 ## rs12426667 (HOXC4) Source: https://orviva.ai/learn/snps/rs12426667 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Systolic blood pressure (β=0.015). [GWAS Catalog] - **CC** (increased): C allele associated with increased A body shape index (β=0.021). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020024 ## rs1243188 (MLLT10) Source: https://orviva.ai/learn/snps/rs1243188 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-hip ratio (β=0.015). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Kidney cancer (OR=1.07). [GWAS Catalog] References: PMID:38671320; GWAS Catalog; GCST90320054 ## rs12438742 (RORA - LINC02349) Source: https://orviva.ai/learn/snps/rs12438742 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Glaucoma (primary open-angle) (β=0.057). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] References: PMID:33627673; GWAS Catalog; GCST90011770 ## rs12440014 (CHRNB4) Source: https://orviva.ai/learn/snps/rs12440014 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Tobacco use disorder (PheCode 318) (β=0.047). [GWAS Catalog] - **GG** (typical / lower): G allele associated with slightly decreased risk of Chronic obstructive pulmonary disease x ever smoker interaction (1df) (OR=0.83). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480769 ## rs12446632 (GPRC5B - GPR139) Source: https://orviva.ai/learn/snps/rs12446632 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.035). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Obesity (OR=1.09). [GWAS Catalog] References: PMID:23563607; GWAS Catalog; GCST001953 ## rs12454712 (BCL2) Source: https://orviva.ai/learn/snps/rs12454712 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.010). [GWAS Catalog] - **TT** (typical): T allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.036). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475352 ## rs12459249 (CYP2F2P - CYP2A6) Source: https://orviva.ai/learn/snps/rs12459249 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Nicotine metabolite ratio in current smokers (OR=0.59). [GWAS Catalog] - **TT** (typical): T allele associated with increased Coffee intake (standard GWA) (β=0.039). [GWAS Catalog] References: PMID:28921760; GWAS Catalog; GCST004976 ## rs12463617 (LINC01875 - TMEM18) Source: https://orviva.ai/learn/snps/rs12463617 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Body mass index (OR=0.10). [GWAS Catalog] - **CC** (slightly elevated): C allele associated with slightly increased risk of Obesity (early onset extreme) (OR=1.42). [GWAS Catalog] References: PMID:23669352; GWAS Catalog; GCST002021 ## rs12469063 (MEIS1) Source: https://orviva.ai/learn/snps/rs12469063 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.009). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.018). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs12476312 (SPHKAP) Source: https://orviva.ai/learn/snps/rs12476312 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (MTAG) (β=0.015). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Schizophrenia (OR=1.04). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs12487736 (SCAP) Source: https://orviva.ai/learn/snps/rs12487736 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.009). [GWAS Catalog] - **TT** (typical): T allele associated with increased QT interval (β=0.019). [GWAS Catalog] References: PMID:36050321; GWAS Catalog; GCST90179153 ## rs12488237 (ERC2) Source: https://orviva.ai/learn/snps/rs12488237 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.016). [GWAS Catalog] - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.016). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs12493885 (ARHGEF26) Source: https://orviva.ai/learn/snps/rs12493885 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **CC** (typical): C allele associated with increased Coronary artery disease (β=0.074). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.011). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs12494424 (SAMMSON) Source: https://orviva.ai/learn/snps/rs12494424 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Educational attainment (β=0.022). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.066). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs12507026 (PRDX4P1 - THAP12P9) Source: https://orviva.ai/learn/snps/rs12507026 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **AA** (increased): A allele associated with increased Body mass index (β=0.029). [GWAS Catalog] - **TT** (typical): T allele associated with increased Drinks per week (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs12511373 (BANK1) Source: https://orviva.ai/learn/snps/rs12511373 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased High density lipoprotein cholesterol levels (β=0.023). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.012). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239652 ## rs12514566 (LINC02142) Source: https://orviva.ai/learn/snps/rs12514566 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Caffeine consumption from coffee or tea (β=0.017). [GWAS Catalog] - **AA** (increased): A allele associated with increased Cigarettes smoked per day (β=0.011). [GWAS Catalog] References: PMID:33287642; GWAS Catalog; GCST011126 ## rs12517438 (HPRT1P2 - RPL19P11) Source: https://orviva.ai/learn/snps/rs12517438 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.008). [GWAS Catalog] - **TT** (typical): T allele associated with increased Depression (β=0.018). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs12530388 (ASCC3) Source: https://orviva.ai/learn/snps/rs12530388 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Depression (β=0.020). [GWAS Catalog] - **CC** (increased): C allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.018). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007474 ## rs1254319 (C14orf39) Source: https://orviva.ai/learn/snps/rs1254319 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Hand grip strength (baseline) (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Refractive error (β=0.039). [GWAS Catalog] References: PMID:35022715; GWAS Catalog; GCST90104407 ## rs12553064 (BRINP1 - LINC01613) Source: https://orviva.ai/learn/snps/rs12553064 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Depression (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Educational attainment (MTAG) (β=0.008). [GWAS Catalog] References: PMID:37464041; GWAS Catalog; GCST90319327 ## rs12567119 (CLCN6) Source: https://orviva.ai/learn/snps/rs12567119 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Systolic blood pressure (β=0.040). [GWAS Catalog] - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.024). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs1257219 (MGAT5) Source: https://orviva.ai/learn/snps/rs1257219 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Transferrin N-glycan 22 levels (OR=0.43). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cholesterol in Small HDL (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501234 ## rs12572775 (SUFU) Source: https://orviva.ai/learn/snps/rs12572775 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (increased): T allele associated with increased Standing height (UKB data field 50) (β=0.019). [GWAS Catalog] - **AA** (typical): A allele associated with increased Allergic disease (asthma, hay fever and/or eczema) (age of onset) (β=0.033). [GWAS Catalog] References: PMID:32603359; GWAS Catalog; GCST010985 ## rs12575636 (LNCRNA-IUR - FAM76B) Source: https://orviva.ai/learn/snps/rs12575636 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.010). [GWAS Catalog] - **GG** (typical): G allele associated with increased HDL cholesterol levels (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501112 ## rs12576996 (OVOL1 - CFL1) Source: https://orviva.ai/learn/snps/rs12576996 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Urate levels (β=0.034). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.042). [GWAS Catalog] References: PMID:33356394; GWAS Catalog; GCST011119 ## rs12590259 (ARMH4, PSMA3-AS1) Source: https://orviva.ai/learn/snps/rs12590259 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (typical): A allele associated with increased Cholesterol to Total Lipids in Medium VLDL percentage (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with increased Linoleic acid percentage of total fatty acids (β=0.018). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454486 ## rs12591128 (ADAMTS17) Source: https://orviva.ai/learn/snps/rs12591128 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased High-density lipoprotein levels (β=0.010). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.019). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662894 ## rs12591786 (RORA-AS1, RORA) Source: https://orviva.ai/learn/snps/rs12591786 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Triglycerides to Total Lipids in Large HDL percentage (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Caffeine consumption from tea (β=0.020). [GWAS Catalog] References: PMID:33287642; GWAS Catalog; GCST011124 ## rs12593149 (AGBL1) Source: https://orviva.ai/learn/snps/rs12593149 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.006). [GWAS Catalog] - **GG** (typical): G allele associated with increased Alcohol consumption (drinks per month) (UKB data field 1578, 4424) (β=0.012). [GWAS Catalog] References: PMID:32193382; GWAS Catalog; GCST90132992 ## rs12597024 (ZFPM1) Source: https://orviva.ai/learn/snps/rs12597024 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Calcium levels (β=0.021). [GWAS Catalog] - **TT** (typical): T allele associated with increased LDL cholesterol (β=0.016). [GWAS Catalog] References: PMID:30275531; GWAS Catalog; GCST006612 ## rs12600121 (PKD1L3) Source: https://orviva.ai/learn/snps/rs12600121 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Urate levels (UKB data field 30880) (β=0.012). [GWAS Catalog] - **CC** (increased): C allele associated with increased Intelligence (MTAG) (β=0.018). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468107 ## rs12600720 (NPTX1) Source: https://orviva.ai/learn/snps/rs12600720 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.013). [GWAS Catalog] - **CC** (typical): C allele associated with increased Thalamus iron levels (quantitative susceptibility mapping) (β=0.040). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs12600751 (FBXL20) Source: https://orviva.ai/learn/snps/rs12600751 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Calculus of kidney (PheCode 594.1) (β=0.071). [GWAS Catalog] - **CC** (increased): C allele associated with increased Educational attainment (years of education) (β=0.011). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480395 ## rs12600861 (CHRNB1) Source: https://orviva.ai/learn/snps/rs12600861 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Parkinson's disease or first degree relation to individual with Parkinson's d... (β=0.057). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist circumference adjusted for body mass index (β=0.018). [GWAS Catalog] References: PMID:31701892; GWAS Catalog; GCST009325 ## rs12601079 (PGS1) Source: https://orviva.ai/learn/snps/rs12601079 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased HDL cholesterol (β=0.033). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.020). [GWAS Catalog] References: PMID:30275531; GWAS Catalog; GCST006611 ## rs12601919 (BPTF) Source: https://orviva.ai/learn/snps/rs12601919 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Triglycerides in small HDL (UKB data field 23578) (β=0.039). [GWAS Catalog] - **AA** (typical): A allele associated with increased Monounsaturated fatty acid levels (β=0.030). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092928 ## rs12602408 (TSPOAP1-AS1) Source: https://orviva.ai/learn/snps/rs12602408 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased ferritin (minimum, inv-norm transformed) (β=0.043). [GWAS Catalog] - **AA** (increased): A allele associated with increased Educational attainment (β=0.007). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs12602912 (BPTF) Source: https://orviva.ai/learn/snps/rs12602912 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.017). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglyceride levels (MTAG) (β=0.025). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179149 ## rs12603813 (PLCD3) Source: https://orviva.ai/learn/snps/rs12603813 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with marginally increased risk of Migraine or glucose levels (OR=1.02). [GWAS Catalog] - **TT** (increased): T allele associated with increased Insomnia (β=0.008). [GWAS Catalog] References: PMID:36808568; GWAS Catalog; GCST90281115 ## rs12633819 (LRIG1) Source: https://orviva.ai/learn/snps/rs12633819 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Atrial fibrillation (OR=1.04). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.009). [GWAS Catalog] References: PMID:40050429; GWAS Catalog; GCST90559230 ## rs1263671 (KLF7) Source: https://orviva.ai/learn/snps/rs1263671 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Educational attainment (β=0.009). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Diastolic blood pressure (OR=0.12). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs12643257 (TET2) Source: https://orviva.ai/learn/snps/rs12643257 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased What is your height? (cm, inv-normal transformed) (β=0.039). [GWAS Catalog] - **GG** (typical): G allele associated with increased Calcium levels (β=0.017). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479637 ## rs12644329 (INPP4B) Source: https://orviva.ai/learn/snps/rs12644329 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Urate levels (β=0.019). [GWAS Catalog] - **GG** (increased): G allele associated with increased Adult body size (β=0.008). [GWAS Catalog] References: PMID:32376654; GWAS Catalog; GCST010988 ## rs12653396 (MIR9-2HG) Source: https://orviva.ai/learn/snps/rs12653396 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (increased): A allele associated with increased Educational attainment (MTAG) (β=0.016). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Attention deficit hyperactivity disorder (childhood) (OR=0.91). [GWAS Catalog] References: PMID:35927488; GWAS Catalog; GCST90137499 ## rs1265564 (CUX2) Source: https://orviva.ai/learn/snps/rs1265564 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.35). [GWAS Catalog] - **AA** (increased): A allele associated with increased Parental longevity (combined parental attained age, Martingale residuals) (β=0.013). [GWAS Catalog] References: PMID:39548300; GWAS Catalog; GCST90310304 ## rs12692738 (COBLL1) Source: https://orviva.ai/learn/snps/rs12692738 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist-hip index (β=0.068). [GWAS Catalog] - **TT** (typical): T allele associated with increased HDL x depression interaction (2df test) (β=0.003). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs12694933 (ACVR1C - ACVR1) Source: https://orviva.ai/learn/snps/rs12694933 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased High-density lipoprotein levels (β=0.021). [GWAS Catalog] - **CC** (increased): C allele associated with increased A body shape index (β=0.026). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662894 ## rs12699415 (MAD1L1) Source: https://orviva.ai/learn/snps/rs12699415 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.013). [GWAS Catalog] - **AA** (slightly elevated): A allele associated with slightly increased risk of Idiopathic pulmonary fibrosis (OR=1.28). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs12708980 (CETP) Source: https://orviva.ai/learn/snps/rs12708980 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **CC** (typical): C allele associated with increased HDL cholesterol (β=0.040). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.006). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs1270942 (CFB) Source: https://orviva.ai/learn/snps/rs1270942 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **CC** (elevated): C allele associated with significantly increased risk of Systemic lupus erythematosus (OR=2.28). [GWAS Catalog] - **GG** (increased): G allele associated with increased IDP dMRI TBSS ICVF Retrolenticular part of internal capsule R (β=0.082). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90004347 ## rs1272131 (C14orf39) Source: https://orviva.ai/learn/snps/rs1272131 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.028). [GWAS Catalog] - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.017). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs12731336 (CCDST - LCE5A) Source: https://orviva.ai/learn/snps/rs12731336 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with increased Vitamin D levels (β=0.080). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Atopic dermatitis (OR=0.29). [GWAS Catalog] References: PMID:35577104; GWAS Catalog; GCST90244002 ## rs12740374 (CELSR2) Source: https://orviva.ai/learn/snps/rs12740374 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **GG** (typical / lower): G allele associated with decreased risk of High cholesterol (OR=0.24). [GWAS Catalog] - **TT** (typical): T allele associated with increased IFNGR2 protein levels (β=0.062). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90469514 ## rs12740789 (LINC02796) Source: https://orviva.ai/learn/snps/rs12740789 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.014). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.028). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007474 ## rs1275609 (SNORA70 - RN7SL734P) Source: https://orviva.ai/learn/snps/rs1275609 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Uric acid levels (β=0.021). [GWAS Catalog] - **AA** (typical): A allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.013). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662871 ## rs12769205 (CYP2C19) Source: https://orviva.ai/learn/snps/rs12769205 (curated, human-reviewed; category: Drug response; effect allele A) - **AA** (reduced): CYP2C19*35 homozygous (splicing defect). Loss of CYP2C19 function; typically linked with *2. - **GA / AG** (reduced): CYP2C19*35 carrier. Non-functional allele. - **GG** (typical): No CYP2C19*35 variant detected. References: CPIC; PharmVar; PMID:28881482 ## rs1277930 (CELSR2 - PSRC1) Source: https://orviva.ai/learn/snps/rs1277930 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Free cholesterol to total lipids ratio in very large HDL (β=0.050). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.011). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302131 ## rs12779328 (CCDC3) Source: https://orviva.ai/learn/snps/rs12779328 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.032). [GWAS Catalog] - **CC** (typical): C allele associated with increased Adiposity (multivariate analysis) (β=0.015). [GWAS Catalog] References: PMID:40796553; GWAS Catalog; GCST90624107 ## rs12780155 (CDC123) Source: https://orviva.ai/learn/snps/rs12780155 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Type 2 diabetes (adjusted for BMI) (OR=0.14). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Type 2 diabetes (OR=0.87). [GWAS Catalog] References: PMID:35393509; GWAS Catalog; GCST90093110 ## rs1278493 (PPP2R3A) Source: https://orviva.ai/learn/snps/rs1278493 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Atrial fibrillation (β=0.040). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.011). [GWAS Catalog] References: PMID:30575882; GWAS Catalog; GCST008733 ## rs12785878 (DHCR7) Source: https://orviva.ai/learn/snps/rs12785878 (curated, human-reviewed; category: Nutrition; effect allele T) - **TT** (increased): Reduced vitamin D synthesis from sunlight. DHCR7 variant affects cholesterol-to-vitamin D conversion. - **GT / TG** (increased): Moderately reduced vitamin D synthesis. - **GG** (typical): Normal vitamin D synthesis from sunlight. References: PMID:20541252; GWAS Catalog ## rs12787996 (YAP1) Source: https://orviva.ai/learn/snps/rs12787996 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.009). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Migraine (OR=1.04). [GWAS Catalog] References: PMID:34294844; GWAS Catalog; GCST90429186 ## rs12790943 (TRIM29 - OAF) Source: https://orviva.ai/learn/snps/rs12790943 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Serum urate levels (β=0.019). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.009). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs12793372 (FTH1 - LINC02733) Source: https://orviva.ai/learn/snps/rs12793372 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased Thalamus iron levels (quantitative susceptibility mapping) (β=0.082). [GWAS Catalog] - **CC** (increased): C allele associated with increased IDP SWI T2star right caudate (β=0.083). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551873 ## rs12798028 (NDUFS3) Source: https://orviva.ai/learn/snps/rs12798028 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Adult body size (β=0.015). [GWAS Catalog] - **TT** (typical): T allele associated with increased Hypothyroidism (β=0.034). [GWAS Catalog] References: PMID:32376654; GWAS Catalog; GCST010988 ## rs12805133 (SPTBN2) Source: https://orviva.ai/learn/snps/rs12805133 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.019). [GWAS Catalog] - **AA** (typical): A allele associated with increased Bipolar disorder (MTAG) (β=0.064). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs12808601 (RPL37AP8 - CRYAB) Source: https://orviva.ai/learn/snps/rs12808601 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.009). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of PR interval (OR=0.51). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs12814794 (SSPN-AS1, SSPN) Source: https://orviva.ai/learn/snps/rs12814794 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.011). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Kidney cancer (OR=0.86). [GWAS Catalog] References: PMID:38671320; GWAS Catalog; GCST90320054 ## rs12828318 (ZNF268) Source: https://orviva.ai/learn/snps/rs12828318 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.018). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.042). [GWAS Catalog] References: PMID:30575882; GWAS Catalog; GCST008733 ## rs12855 (CDKN2C) Source: https://orviva.ai/learn/snps/rs12855 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Type 2 diabetes (OR=0.12). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.060). [GWAS Catalog] References: PMID:35831902; GWAS Catalog; GCST90131910 ## rs12856169 (UBE2L5 - HMGB1) Source: https://orviva.ai/learn/snps/rs12856169 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.036). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs1285841 (CCDC88C) Source: https://orviva.ai/learn/snps/rs1285841 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased White matter hyperintensity volume (adjusted for hypertension) (β=0.038). [GWAS Catalog] - **TT** (increased): T allele associated with increased IDP dMRI TBSS ISOVF Fornix (β=0.064). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90004482 ## rs12879626 (EGLN3) Source: https://orviva.ai/learn/snps/rs12879626 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with increased Primary open angle glaucoma (MTAG) (β=0.075). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.009). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs12883788 (AKAP6) Source: https://orviva.ai/learn/snps/rs12883788 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (β=0.021). [GWAS Catalog] - **CC** (typical): C allele associated with increased Morbid obesity (PheCode 278.11) (β=0.056). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475765 ## rs12885977 (RPS29P1 - DCAF5) Source: https://orviva.ai/learn/snps/rs12885977 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Cholesterol to Total Lipids in Small VLDL percentage (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Noncognitive aspects of educational attainment (β=0.042). [GWAS Catalog] References: PMID:33414549; GWAS Catalog; GCST90011874 ## rs12898464 (ENTREP2) Source: https://orviva.ai/learn/snps/rs12898464 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (MTAG) (β=0.018). [GWAS Catalog] - **CC** (typical): C allele associated with increased Depression (β=0.025). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs12902636 (SEMA6D) Source: https://orviva.ai/learn/snps/rs12902636 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.012). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.012). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs12908437 (IGF1R) Source: https://orviva.ai/learn/snps/rs12908437 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Serum urate levels (β=0.048). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.010). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319904 ## rs12912487 (DRAIC) Source: https://orviva.ai/learn/snps/rs12912487 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.047). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Systemic lupus erythematosus (MTAG) (OR=0.11). [GWAS Catalog] References: PMID:36750564; GWAS Catalog; GCST90270940 ## rs12913832 (HERC2/OCA2) Source: https://orviva.ai/learn/snps/rs12913832 (curated, human-reviewed; category: Trait; effect allele G) - **GG** (typical / lower): Likely blue or light-colored eyes. Strongest single predictor of blue eye color. - **GA / AG** (typical / lower): Variable eye color; may be green, hazel, or light brown. - **AA** (typical / lower): Likely brown eyes. References: PMID:18172690; OMIM:227220 ## rs12914385 (CHRNA3) Source: https://orviva.ai/learn/snps/rs12914385 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Chronic airway obstruction (PheCode 496) (β=0.096). [GWAS Catalog] - **TT** (increased): T allele associated with increased Cigarettes smoked per day (current) (β=0.014). [GWAS Catalog] References: PMID:33082346; GWAS Catalog; GCST011700 ## rs12914977 (IGF1R) Source: https://orviva.ai/learn/snps/rs12914977 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs12917449 (PML) Source: https://orviva.ai/learn/snps/rs12917449 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Insomnia (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.036). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs1292072 (RNU6-450P - TUBD1) Source: https://orviva.ai/learn/snps/rs1292072 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.016). [GWAS Catalog] - **AA** (typical): A allele associated with increased Soluble transferrin receptor concentration (β=0.048). [GWAS Catalog] References: PMID:39643614; GWAS Catalog; GCST90451684 ## rs12925612 (CTU2) Source: https://orviva.ai/learn/snps/rs12925612 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased HDL cholesterol levels (UKB data field 30760) (β=0.053). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.042). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468075 ## rs12930727 (TNRC6A) Source: https://orviva.ai/learn/snps/rs12930727 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with increased systolic blood pressure (SBP, mean, inv-normal transformed) (β=0.023). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.022). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662887 ## rs12933292 (CYB5B - NFAT5) Source: https://orviva.ai/learn/snps/rs12933292 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Age of smoking initiation (MTAG) (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with increased Heart failure (β=0.034). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007462 ## rs12934922 (BCMO1) Source: https://orviva.ai/learn/snps/rs12934922 (curated, human-reviewed; category: Nutrition; effect allele T) - **TT** (increased): BCMO1 R267S homozygous. Reduced beta-carotene conversion; combined with rs7501331 can cause ~57% reduction. - **AT / TA** (typical): Moderately reduced beta-carotene conversion. - **AA** (typical): Normal BCMO1 function at this position. References: PMID:19103647 ## rs12936587 (PEMT - SMCR2) Source: https://orviva.ai/learn/snps/rs12936587 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Coronary artery disease (β=0.036). [GWAS Catalog] References: PMID:29212778; GWAS Catalog; GCST005196 ## rs12936645 (ARHGAP27) Source: https://orviva.ai/learn/snps/rs12936645 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Spherical equivalent (β=0.090). [GWAS Catalog] - **AA** (increased): A allele associated with increased Fluid intelligence score (baseline) (β=0.021). [GWAS Catalog] References: PMID:32352494; GWAS Catalog; GCST010378 ## rs1294404 (LY86 - BTF3P7) Source: https://orviva.ai/learn/snps/rs1294404 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.019). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.035). [GWAS Catalog] References: PMID:26426971; GWAS Catalog; GCST005956 ## rs12946510 (GRB7 - IKZF3) Source: https://orviva.ai/learn/snps/rs12946510 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with marginally increased risk of Inflammatory bowel disease (OR=1.14). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.016). [GWAS Catalog] References: PMID:26192919; GWAS Catalog; GCST003043 ## rs12948394 (PGS1) Source: https://orviva.ai/learn/snps/rs12948394 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Low density lipoprotein cholesterol levels (β=0.020). [GWAS Catalog] - **TT** (typical): T allele associated with increased Polyunsaturated fatty acid levels (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501229 ## rs12951376 (TOM1L2) Source: https://orviva.ai/learn/snps/rs12951376 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Drinks per week (β=0.008). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-hip index (β=0.020). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs12951408 (PSMB3) Source: https://orviva.ai/learn/snps/rs12951408 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Hand grip strength left (UKB data field 46) (β=0.012). [GWAS Catalog] - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.013). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468168 ## rs1296328 (RNU1-89P - TERF1P3) Source: https://orviva.ai/learn/snps/rs1296328 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.018). [GWAS Catalog] - **AA** (typical): A allele associated with increased Obesity (PheCode 278.1) (β=0.031). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs12967143 (TCF4) Source: https://orviva.ai/learn/snps/rs12967143 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Depression (OR=1.03). [GWAS Catalog] - **CC** (increased): C allele associated with increased Cigarettes smoked per day (β=0.014). [GWAS Catalog] References: PMID:30718901; GWAS Catalog; GCST007342 ## rs12969709 (RNU4-17P - MC4R) Source: https://orviva.ai/learn/snps/rs12969709 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (β=0.057). [GWAS Catalog] - **CC** (typical): C allele associated with increased Gout (PheCode 274.1) (β=0.056). [GWAS Catalog] References: PMID:28448500; GWAS Catalog; GCST004557 ## rs12972156 (LNCOB1, NECTIN2) Source: https://orviva.ai/learn/snps/rs12972156 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **CC** (typical / lower): C allele associated with decreased risk of Metabolic syndrome (OR=0.13). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Cerebral amyloid deposition (PET imaging) (OR=0.17). [GWAS Catalog] References: PMID:30361487; GWAS Catalog; GCST006904 ## rs12972970 (NECTIN2, LNCOB1) Source: https://orviva.ai/learn/snps/rs12972970 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Metabolic syndrome (OR=0.13). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Cerebral amyloid deposition (PET imaging) (OR=0.17). [GWAS Catalog] References: PMID:30361487; GWAS Catalog; GCST006904 ## rs12975366 (LILRB5) Source: https://orviva.ai/learn/snps/rs12975366 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of FOLR2 protein levels (OR=0.13). [GWAS Catalog] - **TT** (typical): T allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.060). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475352 ## rs12979860 (IFNL3) Source: https://orviva.ai/learn/snps/rs12979860 (imported from public databases, not individually reviewed; category: Drug response) - **CC** (typical): IFNL3 favorable genotype. Higher likelihood of sustained virological response to peginterferon-based hepatitis C treatment. - **CT** (increased): IFNL3 intermediate genotype. Reduced likelihood of SVR to peginterferon-based HCV treatment. Prefer direct-acting antivirals. - **TT** (increased): IFNL3 unfavorable genotype. Low likelihood of SVR to peginterferon-based HCV treatment. Direct-acting antivirals strongly preferred. References: PharmGKB:1A; Drug:peginterferon alfa-2a; Type:Efficacy ## rs12987661 (AAK1) Source: https://orviva.ai/learn/snps/rs12987661 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Serum urate levels (β=0.042). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.008). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs13002567 (DNMT3A) Source: https://orviva.ai/learn/snps/rs13002567 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.038). [GWAS Catalog] - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.020). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs13015714 (IL18R1) Source: https://orviva.ai/learn/snps/rs13015714 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (slightly elevated): G allele associated with slightly increased risk of Atopic dermatitis (OR=1.27). [GWAS Catalog] - **CC** (slightly elevated): C allele associated with slightly increased risk of Celiac disease (OR=1.28). [GWAS Catalog] References: PMID:23042114; GWAS Catalog; GCST001709 ## rs13035244 (ADCY3) Source: https://orviva.ai/learn/snps/rs13035244 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased BMI at 1 year old (β=0.098). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.16). [GWAS Catalog] References: PMID:31575865; GWAS Catalog; GCST009294 ## rs13042148 (PXMP4) Source: https://orviva.ai/learn/snps/rs13042148 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.014). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.16). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs13044899 (NCOA6) Source: https://orviva.ai/learn/snps/rs13044899 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.029). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.042). [GWAS Catalog] References: PMID:28552196; GWAS Catalog; GCST008163 ## rs13048654 (OLIG1 - LINC01548) Source: https://orviva.ai/learn/snps/rs13048654 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Drinks per week (β=0.007). [GWAS Catalog] - **CC** (increased): C allele associated with increased Educational attainment (β=0.009). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs13072100 (KRT18P35 - RASA2) Source: https://orviva.ai/learn/snps/rs13072100 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.046). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cholesterol levels in small HDL (β=0.025). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092944 ## rs13076933 (GSTM5P1 - PPARG) Source: https://orviva.ai/learn/snps/rs13076933 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Low density lipoprotein cholesterol levels (β=0.032). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-hip index (β=0.027). [GWAS Catalog] References: PMID:32493714; GWAS Catalog; GCST90002412 ## rs13078807 (CADM2) Source: https://orviva.ai/learn/snps/rs13078807 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Systolic blood pressure (OR=0.19). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Body mass index (OR=0.10). [GWAS Catalog] References: PMID:20935630; GWAS Catalog; GCST000830 ## rs13079612 (RPL21P41 - KBTBD8) Source: https://orviva.ai/learn/snps/rs13079612 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased CBLIF protein levels (β=0.044). [GWAS Catalog] - **TT** (typical): T allele associated with increased Open-angle glaucoma (PheCode 365.1) (β=0.059). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480067 ## rs13082076 (MBNL1) Source: https://orviva.ai/learn/snps/rs13082076 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased High density lipoprotein cholesterol levels (β=0.012). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239652 ## rs13083375 (PPARG) Source: https://orviva.ai/learn/snps/rs13083375 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (BMI, minimum, inv-normal transformed) (β=0.040). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Fatty acid-binding protein, heart levels (OR=0.13). [GWAS Catalog] References: PMID:34648354; GWAS Catalog; GCST90247548 ## rs13099267 (UBE2E1) Source: https://orviva.ai/learn/snps/rs13099267 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] - **CC** (increased): C allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.006). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs13101828 (DGKQ) Source: https://orviva.ai/learn/snps/rs13101828 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Triglycerides to Total Lipids in Large HDL percentage (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-hip ratio (β=0.018). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501145 ## rs13105682 (BANK1) Source: https://orviva.ai/learn/snps/rs13105682 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (typical / lower): G allele associated with decreased risk of aseg rh intensity Accumbens-area (OR=0.31). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Osteoarthritis (OR=0.99). [GWAS Catalog] References: PMID:36411363; GWAS Catalog; GCST90134284 ## rs13109980 (MAML3) Source: https://orviva.ai/learn/snps/rs13109980 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs13114738 (SLC39A8) Source: https://orviva.ai/learn/snps/rs13114738 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.023). [GWAS Catalog] - **CC** (typical): C allele associated with increased High density lipoprotein cholesterol levels (β=0.046). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs13120254 (ABCG2 - PPM1K) Source: https://orviva.ai/learn/snps/rs13120254 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (typical / lower): A allele associated with decreased risk of Serum uric acid levels (OR=0.14). [GWAS Catalog] - **CC** (typical / lower): C allele associated with slightly decreased risk of Hyperuricemia in high vitamin E intake (OR=0.81). [GWAS Catalog] References: PMID:40835619; GWAS Catalog; GCST90693184 ## rs13120371 (SLC7A11-AS1, SLC7A11) Source: https://orviva.ai/learn/snps/rs13120371 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.013). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cholesteryl Esters in Small HDL (β=0.010). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662911 ## rs13130484 (PRDX4P1 - THAP12P9) Source: https://orviva.ai/learn/snps/rs13130484 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (β=0.037). [GWAS Catalog] - **CC** (typical): C allele associated with increased Obesity (PheCode 278.1) (β=0.060). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475762 ## rs13135092 (SLC39A8) Source: https://orviva.ai/learn/snps/rs13135092 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (increased): A allele associated with increased Educational attainment (β=0.030). [GWAS Catalog] - **GG** (typical): G allele associated with increased Problematic alcohol use (MTAG) (β=0.052). [GWAS Catalog] References: PMID:32451486; GWAS Catalog; GCST010544 ## rs1313996 (C2) Source: https://orviva.ai/learn/snps/rs1313996 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (typical / lower): T allele associated with slightly decreased risk of Youthful appearance (self-reported) (OR=0.97). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total cholesterol to total lipids ratio in very small VLDL (β=0.027). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302151 ## rs13146355 (SHROOM3) Source: https://orviva.ai/learn/snps/rs13146355 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with increased magnesium (Mg, mean, inv-norm transformed) (β=0.065). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.014). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662893 ## rs1316776 (DMGDH) Source: https://orviva.ai/learn/snps/rs1316776 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **CC** (typical): C allele associated with marginally increased risk of Type 2 diabetes (OR=1.05). [GWAS Catalog] - **AA** (typical): A allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.021). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454484 ## rs1317571 (CAMKV - ACTL11P) Source: https://orviva.ai/learn/snps/rs1317571 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Phospholipids to Total Lipids in Very Small VLDL percentage (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Hip index (β=0.023). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020026 ## rs13176429 (ZNF131) Source: https://orviva.ai/learn/snps/rs13176429 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (β=0.016). [GWAS Catalog] - **CC** (typical): C allele associated with increased Attention deficit hyperactivity disorder (β=0.018). [GWAS Catalog] References: PMID:40962958; GWAS Catalog; GCST90568441 ## rs13179413 (C5orf67) Source: https://orviva.ai/learn/snps/rs13179413 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Cholesteryl Esters to Total Lipids in IDL percentage (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Ratio of linoleic acid to total fatty acids (β=0.029). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501124 ## rs13191038 (GPX6) Source: https://orviva.ai/learn/snps/rs13191038 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Childhood body mass index (β=0.027). [GWAS Catalog] - **CC** (typical): C allele associated with increased Depression (broad) (β=0.013). [GWAS Catalog] References: PMID:29662059; GWAS Catalog; GCST005902 ## rs13192740 (EXOC2) Source: https://orviva.ai/learn/snps/rs13192740 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Psoriasis (β=0.069). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Brown vs. black hair color (OR=1.09). [GWAS Catalog] References: PMID:30531825; GWAS Catalog; GCST006989 ## rs13198474 (SLC17A3) Source: https://orviva.ai/learn/snps/rs13198474 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Systemic lupus erythematosus (MTAG) (OR=0.34). [GWAS Catalog] - **AA** (increased): A allele associated with increased IDP dMRI TBSS ICVF Posterior thalamic radiation R (β=0.098). [GWAS Catalog] References: PMID:36750564; GWAS Catalog; GCST90270940 ## rs13198716 (HMGN4 - ABT1) Source: https://orviva.ai/learn/snps/rs13198716 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Childhood body mass index (β=0.028). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.23). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301649 ## rs13202295 (LINC01012 - GPR89P) Source: https://orviva.ai/learn/snps/rs13202295 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Serum urate levels (β=0.053). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Cognitive aspects of educational attainment (OR=0.11). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319906 ## rs13204965 (RPS4XP9 - RSPO3) Source: https://orviva.ai/learn/snps/rs13204965 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Total body bone mineral density (β=0.062). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.009). [GWAS Catalog] References: PMID:29304378; GWAS Catalog; GCST005348 ## rs13211683 (L3MBTL3) Source: https://orviva.ai/learn/snps/rs13211683 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Waist-hip index (β=0.021). [GWAS Catalog] - **GG** (typical): G allele associated with increased Phospholipids to total lipids ratio in medium HDL (β=0.025). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092901 ## rs13213957 (SLC17A1) Source: https://orviva.ai/learn/snps/rs13213957 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with slightly decreased risk of Coeliac disease (OR=0.84). [GWAS Catalog] - **TT** (increased): T allele associated with increased Childhood body mass index (β=0.026). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301649 ## rs13217620 (RPL8P1 - LINC01012) Source: https://orviva.ai/learn/snps/rs13217620 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Fluid intelligence score (baseline) (β=0.040). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Lung cancer (OR=1.15). [GWAS Catalog] References: PMID:28604730; GWAS Catalog; GCST004748 ## rs13219518 (BTBD9) Source: https://orviva.ai/learn/snps/rs13219518 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (typical): A allele associated with increased Sleep disorders (PheCode 327) (β=0.047). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sleep start time (β=0.037). [GWAS Catalog] References: PMID:33075057; GWAS Catalog; GCST012037 ## rs13236710 (GRB10) Source: https://orviva.ai/learn/snps/rs13236710 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Type 2 diabetes (OR=1.05). [GWAS Catalog] References: PMID:35551307; GWAS Catalog; GCST90132183 ## rs13238939 (DNAH11) Source: https://orviva.ai/learn/snps/rs13238939 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Educational attainment (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Phospholipids to total lipids ratio in large HDL (β=0.026). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs13239186 (CTTNBP2) Source: https://orviva.ai/learn/snps/rs13239186 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Type 2 diabetes (β=0.054). [GWAS Catalog] - **CC** (increased): C allele associated with increased Noncognitive aspects of educational attainment (β=0.046). [GWAS Catalog] References: PMID:30054458; GWAS Catalog; GCST006867 ## rs13258934 (DEFB131E - VPS51P12) Source: https://orviva.ai/learn/snps/rs13258934 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Free cholesterol to total lipids ratio in small HDL (β=0.028). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist circumference adjusted for body mass index (β=0.019). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012226 ## rs13261635 (COLEC10) Source: https://orviva.ai/learn/snps/rs13261635 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Educational attainment (MTAG) (β=0.009). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Basal cell carcinoma (OR=1.06). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006571 ## rs13262031 (PPP1R3B-DT - TNKS) Source: https://orviva.ai/learn/snps/rs13262031 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Average diameter for VLDL particles (β=0.029). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.017). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90093002 ## rs13266634 (SLC30A8) Source: https://orviva.ai/learn/snps/rs13266634 (curated, human-reviewed; category: Health risk; effect allele C) - **CC** (slightly elevated): SLC30A8 Arg325Trp. Increased T2D risk; affects zinc transport in pancreatic beta cells. - **CT / TC** (typical): Intermediate T2D risk at SLC30A8. - **TT** (typical / lower): Protective allele at SLC30A8. Reduced T2D risk. References: PMID:17460697; GWAS Catalog ## rs13275864 (BLK) Source: https://orviva.ai/learn/snps/rs13275864 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Free Cholesterol to Total Lipids in Large HDL percentage (β=0.030). [GWAS Catalog] - **CC** (increased): C allele associated with increased Childhood body mass index (β=0.014). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501139 ## rs1327645 (DLEU1, DLEU7) Source: https://orviva.ai/learn/snps/rs1327645 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.030). [GWAS Catalog] - **AA** (typical): A allele associated with increased Linoleic acid to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501171 ## rs13279104 (CHD7 - IFITM3P8) Source: https://orviva.ai/learn/snps/rs13279104 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.011). [GWAS Catalog] - **CC** (increased): C allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.009). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs13280055 (LINC00208 - GATA4) Source: https://orviva.ai/learn/snps/rs13280055 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Triglyceride levels (MTAG) (β=0.034). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.008). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs13280521 (PDE7A, MTFR1) Source: https://orviva.ai/learn/snps/rs13280521 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs13283964 (SPAAR - PGAM1P2) Source: https://orviva.ai/learn/snps/rs13283964 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.021). [GWAS Catalog] - **TT** (typical): T allele associated with increased Diastolic blood pressure (β=0.011). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662909 ## rs13287131 (SEMA4D - GADD45G) Source: https://orviva.ai/learn/snps/rs13287131 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.011). [GWAS Catalog] - **TT** (typical): T allele associated with increased Free cholesterol to total lipids ratio in large LDL (β=0.026). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092861 ## rs13303 (STAB1) Source: https://orviva.ai/learn/snps/rs13303 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (additive genetic model) (β=0.021). [GWAS Catalog] - **CC** (typical): C allele associated with increased Free Cholesterol to Total Lipids in IDL percentage (β=0.010). [GWAS Catalog] References: PMID:30778226; GWAS Catalog; GCST007487 ## rs13303359 (OPTC - ATP2B4) Source: https://orviva.ai/learn/snps/rs13303359 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.031). [GWAS Catalog] - **CC** (typical): C allele associated with increased Cholesterol levels in very large HDL (β=0.010). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs13322435 (LINC00880) Source: https://orviva.ai/learn/snps/rs13322435 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Cholesteryl Esters in Small HDL (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Birth length (MTAG) (β=0.068). [GWAS Catalog] References: PMID:31681408; GWAS Catalog; GCST009499 ## rs13326165 (STAB1) Source: https://orviva.ai/learn/snps/rs13326165 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Free Cholesterol to Total Lipids in Very Large HDL percentage (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.024). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501299 ## rs1333049 (9p21.3/CDKN2A/B) Source: https://orviva.ai/learn/snps/rs1333049 (curated, human-reviewed; category: Health risk; effect allele C) - **CC** (elevated): Significantly increased risk for coronary artery disease. 9p21.3 is the strongest known genetic risk factor for CAD. - **CG / GC** (slightly elevated): Moderately increased risk for coronary artery disease. - **GG** (typical / lower): Typical risk for coronary artery disease at this locus. References: PMID:17634449; GWAS Catalog ## rs13336428 (RPS3AP2 - PTX4) Source: https://orviva.ai/learn/snps/rs13336428 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Femoral neck bone mineral density (β=0.040). [GWAS Catalog] References: PMID:22504420; GWAS Catalog; GCST007691 ## rs13357015 (RASGRF2) Source: https://orviva.ai/learn/snps/rs13357015 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.008). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs13379043 (MIDEAS) Source: https://orviva.ai/learn/snps/rs13379043 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.038). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.010). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs13383034 (LINC01833) Source: https://orviva.ai/learn/snps/rs13383034 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased Drinks per week (β=0.014). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (BMI, minimum, inv-normal transformed) (β=0.023). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs13389219 (COBLL1) Source: https://orviva.ai/learn/snps/rs13389219 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-hip index (β=0.069). [GWAS Catalog] - **CC** (typical): C allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.061). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475352 ## rs13391980 (GRB14 - COBLL1) Source: https://orviva.ai/learn/snps/rs13391980 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist-hip index (β=0.086). [GWAS Catalog] - **GG** (typical): G allele associated with increased Takes medication for Diabetes/sugar? (β=0.088). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs134041 (LINC02554 - CPMER) Source: https://orviva.ai/learn/snps/rs134041 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.010). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Diastolic blood pressure (OR=0.11). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs13413953 (ARHGAP15) Source: https://orviva.ai/learn/snps/rs13413953 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (typical): G allele associated with increased Depressed affect (β=0.014). [GWAS Catalog] - **TT** (typical): T allele associated with increased Alcohol consumption (drinks per week) (β=0.014). [GWAS Catalog] References: PMID:30643258; GWAS Catalog; GCST007328 ## rs13428598 (ARHGAP15) Source: https://orviva.ai/learn/snps/rs13428598 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Educational attainment (MTAG) (β=0.015). [GWAS Catalog] - **CC** (typical): C allele associated with increased diastolic blood pressure (DBP, mean, inv-normal transformed) (β=0.026). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006571 ## rs1344674 (ZBTB38) Source: https://orviva.ai/learn/snps/rs1344674 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Prostate cancer (OR=1.05). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist circumference adjusted for BMI (adjusted for smoking behaviour) (β=0.027). [GWAS Catalog] References: PMID:37945903; GWAS Catalog; GCST90274713 ## rs1345203 (SOCAR, MIR4435-2HG) Source: https://orviva.ai/learn/snps/rs1345203 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-hip ratio (β=0.019). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.034). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs1349852 (UGT2B15) Source: https://orviva.ai/learn/snps/rs1349852 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.019). [GWAS Catalog] - **AA** (typical): A allele associated with increased HDL cholesterol levels (β=0.011). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs1354034 (ARHGEF3) Source: https://orviva.ai/learn/snps/rs1354034 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased PRKRA protein levels (β=0.093). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Fatty acid-binding protein 12 levels (OR=0.18). [GWAS Catalog] References: PMID:34648354; GWAS Catalog; GCST90247542 ## rs1355637 (ENSA) Source: https://orviva.ai/learn/snps/rs1355637 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.046). [GWAS Catalog] - **CC** (typical): C allele associated with increased Substantia nigra iron levels (quantitative susceptibility mapping) (β=0.048). [GWAS Catalog] References: PMID:36333282; GWAS Catalog; GCST90244007 ## rs1359062 (RGS2-AS1) Source: https://orviva.ai/learn/snps/rs1359062 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (slightly elevated): G allele associated with slightly increased risk of Celiac disease (OR=1.30). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Multiple sclerosis (OR=1.15). [GWAS Catalog] References: PMID:24076602; GWAS Catalog; GCST005531 ## rs1359790 (LINC01080) Source: https://orviva.ai/learn/snps/rs1359790 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.015). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Type 2 diabetes (OR=1.09). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs1364063 (CYB5B - NFAT5) Source: https://orviva.ai/learn/snps/rs1364063 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.018). [GWAS Catalog] - **TT** (typical): T allele associated with increased Type 2 diabetes (PheCode 250.2) (β=0.042). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs1365297 (Y_RNA - FNBP1L) Source: https://orviva.ai/learn/snps/rs1365297 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Cholesteryl Esters in HDL (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Ratio of monounsaturated fatty acids to total fatty acids (β=0.028). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092929 ## rs1366594 (MEF2C-AS1) Source: https://orviva.ai/learn/snps/rs1366594 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Femoral neck bone mineral density (β=0.080). [GWAS Catalog] - **CC** (increased): C allele associated with increased Male-pattern baldness (β=0.027). [GWAS Catalog] References: PMID:30573740; GWAS Catalog; GCST007020 ## rs1371044 (TEX41) Source: https://orviva.ai/learn/snps/rs1371044 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased diastolic blood pressure (DBP, mean, inv-normal transformed) (β=0.033). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479581 ## rs1373067 (ABCA8) Source: https://orviva.ai/learn/snps/rs1373067 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased HDL cholesterol levels (β=0.028). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.004). [GWAS Catalog] References: PMID:28334899; GWAS Catalog; GCST004232 ## rs138062324 (CCDC62) Source: https://orviva.ai/learn/snps/rs138062324 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.018). [GWAS Catalog] - **AA** (typical): A allele associated with increased Type 2 diabetes (β=0.046). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs1381287 (LINC01550 - LINC02295) Source: https://orviva.ai/learn/snps/rs1381287 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.014). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs138204164 (MRPL42P1 - USP53) Source: https://orviva.ai/learn/snps/rs138204164 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with increased Low density lipoprotein cholesterol levels (β=0.015). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012106 ## rs138234416 (ZSCAN16-AS1) Source: https://orviva.ai/learn/snps/rs138234416 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (elevated): A allele associated with significantly increased risk of Colorectal cancer (age of onset) (OR=2.01). [GWAS Catalog] - **GG** (increased): G allele associated with increased Symbol digit substitution test performance (baseline) (β=0.036). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565841 ## rs1385108 (RPL6P32 - RNA5SP199) Source: https://orviva.ai/learn/snps/rs1385108 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs138682554 (FES) Source: https://orviva.ai/learn/snps/rs138682554 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Systolic blood pressure (OR=0.73). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.024). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs138958276 (ABCG5) Source: https://orviva.ai/learn/snps/rs138958276 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Direct low density lipoprotein levels (UKB data field 30780) (β=0.043). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.018). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468080 ## rs139271800 (PLIN1) Source: https://orviva.ai/learn/snps/rs139271800 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (OR=0.61). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of BMI-adjusted waist-hip ratio (OR=0.22). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475352 ## rs1396515 (CALM2P1 - CASC17) Source: https://orviva.ai/learn/snps/rs1396515 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Hip index (β=0.039). [GWAS Catalog] - **CC** (typical / lower): C allele associated with slightly decreased risk of QT interval (OR=0.98). [GWAS Catalog] References: PMID:24952745; GWAS Catalog; GCST002500 ## rs1396517 (CALM2P1 - CASC17) Source: https://orviva.ai/learn/snps/rs1396517 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.028). [GWAS Catalog] - **CC** (typical): C allele associated with increased Atrial fibrillation (β=0.034). [GWAS Catalog] References: PMID:25673412; GWAS Catalog; GCST004067 ## rs139974673 (CATSPER2P1, CATSPER2P1) Source: https://orviva.ai/learn/snps/rs139974673 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Free Cholesterol to Total Lipids in Large LDL percentage (OR=0.18). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.066). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs1402398 (ACTG1P22 - VRK2) Source: https://orviva.ai/learn/snps/rs1402398 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (high): A allele associated with substantially increased risk of Problematic alcohol use (OR=7.10). [GWAS Catalog] - **GG** (high): G allele associated with substantially increased risk of Generalized epilepsy (OR=6.79). [GWAS Catalog] References: PMID:30531953; GWAS Catalog; GCST007353 ## rs140312320 (PITX3) Source: https://orviva.ai/learn/snps/rs140312320 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Phospholipids to Total Lipids in Small HDL percentage (β=0.060). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.017). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012106 ## rs140386498 (MINDY1) Source: https://orviva.ai/learn/snps/rs140386498 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Type 2 diabetes (PheCode 250.2) (OR=0.14). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.034). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475667 ## rs140570886 (LPA) Source: https://orviva.ai/learn/snps/rs140570886 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Cholesteryl Esters to Total Lipids in Large VLDL percentage (OR=0.40). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Monounsaturated fatty acid levels (OR=0.33). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092928 ## rs1407040 (GNAS) Source: https://orviva.ai/learn/snps/rs1407040 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Serum urate levels (β=0.022). [GWAS Catalog] - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.003). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319904 ## rs1407243 (ASTN2-AS1, ASTN2) Source: https://orviva.ai/learn/snps/rs1407243 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.019). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of PR interval (OR=0.37). [GWAS Catalog] References: PMID:32439900; GWAS Catalog; GCST010321 ## rs1408 (AFF1) Source: https://orviva.ai/learn/snps/rs1408 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.011). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglycerides (β=0.030). [GWAS Catalog] References: PMID:30275531; GWAS Catalog; GCST006613 ## rs1411432 (BNC2) Source: https://orviva.ai/learn/snps/rs1411432 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Body mass index (β=0.021). [GWAS Catalog] - **CC** (typical): C allele associated with increased Concentration of large HDL particles (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501141 ## rs1412265 (DNAH8) Source: https://orviva.ai/learn/snps/rs1412265 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Overweight, obesity and other hyperalimentation (PheCode 278) (β=0.029). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (β=0.006). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs141469619 (APOA1-AS, SIK3) Source: https://orviva.ai/learn/snps/rs141469619 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of HDL cholesterol levels (OR=0.20). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Monounsaturated fatty acids to total fatty acids percentage (UKB data field 2... (OR=0.26). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269551 ## rs1415701 (L3MBTL3) Source: https://orviva.ai/learn/snps/rs1415701 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.037). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.017). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662886 ## rs142158911 (SMARCA4 - LDLR) Source: https://orviva.ai/learn/snps/rs142158911 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Total lipids in very small VLDL (UKB data field 23517) (OR=0.14). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total omega-6 fatty acid levels (β=0.094). [GWAS Catalog] References: PMID:35692035; GWAS Catalog; GCST90133364 ## rs1426371 (WSCD2) Source: https://orviva.ai/learn/snps/rs1426371 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.043). [GWAS Catalog] - **AA** (typical): A allele associated with increased Drinks per week (β=0.007). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243984 ## rs1426654 (SLC24A5) Source: https://orviva.ai/learn/snps/rs1426654 (curated, human-reviewed; category: Ancestry; effect allele A) - **AA** (typical / lower): SLC24A5 Thr111Ala. Lighter skin pigmentation variant. Nearly fixed in European populations. - **AG / GA** (typical / lower): Heterozygous. Mixed ancestry signal for skin pigmentation. - **GG** (typical / lower): Ancestral SLC24A5 variant. Common in African and East Asian populations. References: PMID:16357253; 1000 Genomes ## rs143076454 (LMF1) Source: https://orviva.ai/learn/snps/rs143076454 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Cholesteryl Esters to Total Lipids in IDL percentage (β=0.050). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.026). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs1431659 (RNA5SP271 - KCNB2) Source: https://orviva.ai/learn/snps/rs1431659 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.018). [GWAS Catalog] - **AA** (typical): A allele associated with increased HDL cholesterol levels (β=0.013). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs143280072 (DLEU1) Source: https://orviva.ai/learn/snps/rs143280072 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (baseline) (β=0.066). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Atrial fibrillation (OR=1.08). [GWAS Catalog] References: PMID:40050429; GWAS Catalog; GCST90559230 ## rs1434282 (LINC01221) Source: https://orviva.ai/learn/snps/rs1434282 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.009). [GWAS Catalog] - **TT** (typical): T allele associated with increased Calcium levels (UKB data field 30680) (β=0.019). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468065 ## rs1434536 (BMPR1B) Source: https://orviva.ai/learn/snps/rs1434536 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.009). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.16). [GWAS Catalog] References: PMID:33230300; GWAS Catalog; GCST90292477 ## rs143465123 (TULP4) Source: https://orviva.ai/learn/snps/rs143465123 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.014). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.017). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs1435428 (RNU6-699P - RNU1-63P) Source: https://orviva.ai/learn/snps/rs1435428 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.014). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs1436138 (SEPTIN9) Source: https://orviva.ai/learn/snps/rs1436138 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.021). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.007). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs1438898 (TEX41) Source: https://orviva.ai/learn/snps/rs1438898 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (typical): A allele associated with marginally increased risk of Youthful appearance (self-reported) (OR=1.06). [GWAS Catalog] - **CC** (typical): C allele associated with increased Attention deficit hyperactivity disorder (β=0.021). [GWAS Catalog] References: PMID:40962958; GWAS Catalog; GCST90568441 ## rs14403 (AKT3) Source: https://orviva.ai/learn/snps/rs14403 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.012). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Schizophrenia (OR=1.10). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs144033177 (CSNK2A1 - TCF15) Source: https://orviva.ai/learn/snps/rs144033177 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.091). [GWAS Catalog] - **AA** (typical): A allele associated with increased High-density lipoprotein levels (β=0.079). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662894 ## rs144317085 (CXXC4-AS1 - RPL6P14) Source: https://orviva.ai/learn/snps/rs144317085 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.074). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Intrinsic epigenetic age acceleration (OR=0.51). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475352 ## rs1443536 (PRKG2 - RNU5A-2P) Source: https://orviva.ai/learn/snps/rs1443536 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.033). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Osteoarthritis (OR=0.98). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018959 ## rs144447022 (LINC03003) Source: https://orviva.ai/learn/snps/rs144447022 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (slightly elevated): G allele associated with slightly increased risk of Schizophrenia (OR=1.25). [GWAS Catalog] - **TT** (increased): T allele associated with increased Intelligence (MTAG) (β=0.036). [GWAS Catalog] References: PMID:29326435; GWAS Catalog; GCST005316 ## rs1447295 (8q24) Source: https://orviva.ai/learn/snps/rs1447295 (curated, human-reviewed; category: Health risk; effect allele A) - **AA** (elevated): Increased risk for prostate cancer. 8q24 is a major prostate cancer susceptibility locus. - **CA / AC** (slightly elevated): Moderately increased prostate cancer risk. - **CC** (typical / lower): Typical prostate cancer risk at this locus. References: PMID:16642016; GWAS Catalog ## rs144861591 (H1-2 - H2BC4) Source: https://orviva.ai/learn/snps/rs144861591 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of total iron (mean, inv-norm transformed) (OR=0.36). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of aseg lh intensity Putamen (OR=0.18). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90003770 ## rs1450807 (SETBP1 - SLC14A2) Source: https://orviva.ai/learn/snps/rs1450807 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Male-pattern baldness (β=0.023). [GWAS Catalog] - **TT** (typical): T allele associated with increased Serum urate levels (β=0.015). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319904 ## rs1458038 (PRDM8 - FGF5) Source: https://orviva.ai/learn/snps/rs1458038 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Diastolic blood pressure (β=0.040). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total fatty acid levels (β=0.020). [GWAS Catalog] References: PMID:38459180; GWAS Catalog; GCST90301698 ## rs146449080 (LPL - RPL30P9) Source: https://orviva.ai/learn/snps/rs146449080 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Triglyceride to phosphoglyceride ratio (β=0.084). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Ratio of monounsaturated fatty acids to total fatty acids (OR=0.11). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092929 ## rs146564277 (ADAM15) Source: https://orviva.ai/learn/snps/rs146564277 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Prostate cancer (OR=1.19). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.057). [GWAS Catalog] References: PMID:37945903; GWAS Catalog; GCST90274713 ## rs1469101 (FST - NDUFS4) Source: https://orviva.ai/learn/snps/rs1469101 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased FST protein levels (β=0.079). [GWAS Catalog] - **TT** (typical): T allele associated with increased Urate levels (β=0.010). [GWAS Catalog] References: PMID:33356394; GWAS Catalog; GCST011119 ## rs146939415 (MIR4713HG, CYP19A1) Source: https://orviva.ai/learn/snps/rs146939415 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.053). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Osteoarthritis (OR=1.12). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs1471251 (AFF1) Source: https://orviva.ai/learn/snps/rs1471251 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (increased): T allele associated with increased Height (β=0.011). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.025). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs1471740 (HMGN1P10, STAG1) Source: https://orviva.ai/learn/snps/rs1471740 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Triglycerides (β=0.027). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.020). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs1474051 (BTAF1) Source: https://orviva.ai/learn/snps/rs1474051 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs147538848 (SINHCAF) Source: https://orviva.ai/learn/snps/rs147538848 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.099). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.030). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010553 ## rs147847496 (DPM3 - HMGN2P18) Source: https://orviva.ai/learn/snps/rs147847496 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with marginally increased risk of Prostate cancer (OR=1.17). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.053). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs1481012 (ABCG2) Source: https://orviva.ai/learn/snps/rs1481012 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Takes medication for gout? (OR=0.58). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Hyperuricemia in low vitamin C intake (OR=1.48). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476382 ## rs1482853 (LINC00880) Source: https://orviva.ai/learn/snps/rs1482853 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased BMI at birth (β=0.099). [GWAS Catalog] - **AA** (typical): A allele associated with increased Cholesteryl Esters to Total Lipids in Medium HDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501185 ## rs148696809 (LINC01556 - KRT18P1) Source: https://orviva.ai/learn/snps/rs148696809 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Cognitive performance (β=0.041). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Lung cancer (OR=1.16). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006572 ## rs1487441 (MIR2113 - EIF4EBP2P3) Source: https://orviva.ai/learn/snps/rs1487441 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Fluid intelligence score (baseline) (β=0.028). [GWAS Catalog] - **AA** (typical): A allele associated with increased Free cholesterol in very large HDL (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501298 ## rs1487445 (MIR2113 - EIF4EBP2P3) Source: https://orviva.ai/learn/snps/rs1487445 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Educational attainment (years of education) (β=0.020). [GWAS Catalog] - **CC** (typical / lower): C allele associated with slightly decreased risk of Bipolar disorder (OR=0.93). [GWAS Catalog] References: PMID:34002096; GWAS Catalog; GCST012465 ## rs148753960 (STX4) Source: https://orviva.ai/learn/snps/rs148753960 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Systolic blood pressure (β=0.081). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.037). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs148982377 (ZNF789, ZNF394) Source: https://orviva.ai/learn/snps/rs148982377 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with marginally increased risk of Plasma 16a-hydroxy DHEA 3-sulfate levels in chronic kidney disease (OR=1.05). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (baseline) (β=0.035). [GWAS Catalog] References: PMID:37277652; GWAS Catalog; GCST90264328 ## rs1490384 (MIR588 - RNU6-200P) Source: https://orviva.ai/learn/snps/rs1490384 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (increased): T allele associated with increased Standing height (UKB data field 50) (β=0.028). [GWAS Catalog] - **CC** (typical): C allele associated with increased Caffeine consumption from coffee or tea (β=0.016). [GWAS Catalog] References: PMID:33287642; GWAS Catalog; GCST011126 ## rs149142833 (CBFA2T2) Source: https://orviva.ai/learn/snps/rs149142833 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.036). [GWAS Catalog] - **CC** (typical): C allele associated with increased triglyceride (minimum, inv-norm transformed) (β=0.034). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476439 ## rs149394327 (APOH) Source: https://orviva.ai/learn/snps/rs149394327 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Average diameter for LDL particles (β=0.080). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.024). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501179 ## rs149496329 (BANK1) Source: https://orviva.ai/learn/snps/rs149496329 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Body mass index (β=0.045). [GWAS Catalog] - **AA** (typical): A allele associated with increased High-density lipoprotein levels (MTAG) (β=0.049). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179147 ## rs1495741 (NAT2 - PSD3) Source: https://orviva.ai/learn/snps/rs1495741 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of 1-methylurate levels (OR=0.35). [GWAS Catalog] - **GG** (typical): G allele associated with increased Monounsaturated fatty acid levels (β=0.043). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092928 ## rs1495743 (NAT2 - PSD3) Source: https://orviva.ai/learn/snps/rs1495743 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **CC** (typical): C allele associated with marginally increased risk of Plasma 5-acetylamino-6-formylamino-3-methyluracil levels in chronic kidney di... (OR=1.16). [GWAS Catalog] - **GG** (typical): G allele associated with increased Iron status biomarkers (total iron binding capacity) (β=0.043). [GWAS Catalog] References: PMID:33536631; GWAS Catalog; GCST011368 ## rs149624078 (LINC02490 - WDR72) Source: https://orviva.ai/learn/snps/rs149624078 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.096). [GWAS Catalog] - **TT** (typical): T allele associated with increased Low-density lipoprotein levels (MTAG) (β=0.035). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179148 ## rs149654682 (VPS37B) Source: https://orviva.ai/learn/snps/rs149654682 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist-hip index (β=0.061). [GWAS Catalog] - **GG** (typical): G allele associated with increased Free cholesterol to total lipids ratio in medium VLDL (β=0.074). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs149778057 (UBE2L5 - HMGB1) Source: https://orviva.ai/learn/snps/rs149778057 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.016). [GWAS Catalog] - **CC** (typical): C allele associated with increased Linoleic acid to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501171 ## rs1498507 (SMAD3) Source: https://orviva.ai/learn/snps/rs1498507 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.015). [GWAS Catalog] - **CC** (increased): C allele associated with increased Male-pattern baldness (β=0.018). [GWAS Catalog] References: PMID:30573740; GWAS Catalog; GCST007020 ## rs150057262 (NR2C2AP - NCAN) Source: https://orviva.ai/learn/snps/rs150057262 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (typical / lower): C allele associated with decreased risk of Omega-3 fatty acid levels (OR=0.21). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of High cholesterol (OR=0.29). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468134 ## rs150090666 (PDE3B) Source: https://orviva.ai/learn/snps/rs150090666 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (OR=0.77). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of BMI-adjusted waist-hip ratio (OR=0.22). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475352 ## rs150116001 (PHF20) Source: https://orviva.ai/learn/snps/rs150116001 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.022). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Idiopathic knee osteoarthritis (OR=0.95). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs1501908 (TIMD4 - HAVCR1) Source: https://orviva.ai/learn/snps/rs1501908 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.052). [GWAS Catalog] - **CC** (typical): C allele associated with increased Polyunsaturated fatty acids to monounsaturated fatty acids ratio (β=0.020). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662857 ## rs150403348 (ARCN1) Source: https://orviva.ai/learn/snps/rs150403348 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.041). [GWAS Catalog] - **AA** (typical): A allele associated with increased Non-HDL cholesterol levels (β=0.051). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239670 ## rs150622725 (SIGLEC1) Source: https://orviva.ai/learn/snps/rs150622725 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of LGALS3BP protein levels (OR=0.62). [GWAS Catalog] - **TT** (reduced): T allele associated with decreased risk of Calpastatin levels (OR=0.40). [GWAS Catalog] References: PMID:34648354; GWAS Catalog; GCST90246818 ## rs150844304 (TP53BP1) Source: https://orviva.ai/learn/snps/rs150844304 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Phospholipids to Total Lipids in IDL percentage (OR=0.12). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Ratio of monounsaturated fatty acids to total fatty acids (OR=0.13). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501130 ## rs150856119 (SLC22A2) Source: https://orviva.ai/learn/snps/rs150856119 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Cholesteryl ester levels in chylomicrons and extremely large VLDL (β=0.087). [GWAS Catalog] - **AA** (typical): A allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.064). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454484 ## rs150962800 (FMN1) Source: https://orviva.ai/learn/snps/rs150962800 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Cutaneous melanoma (MTAG) (OR=0.17). [GWAS Catalog] - **TT** (increased): T allele associated with increased Male-pattern baldness (β=0.072). [GWAS Catalog] References: PMID:30573740; GWAS Catalog; GCST007020 ## rs151014368 (LMAN2) Source: https://orviva.ai/learn/snps/rs151014368 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Sleep duration (β=0.016). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cholesterol to total lipids ratio in large HDL (β=0.026). [GWAS Catalog] References: PMID:37384397; GWAS Catalog; GCST90272876 ## rs1510224 (LPAL2, LPAL2) Source: https://orviva.ai/learn/snps/rs1510224 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Parental longevity (combined parental attained age, Martingale residuals) (β=0.055). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Cardiometabolic multimorbidity (OR=0.28). [GWAS Catalog] References: PMID:38409652; GWAS Catalog; GCST90274723 ## rs1511473 (SPTLC1P2 - ISG20L2P1) Source: https://orviva.ai/learn/snps/rs1511473 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Red wine consumption (glasses per month) (UKB data field 1578, 4419) (β=0.016). [GWAS Catalog] - **CC** (increased): C allele associated with increased Educational attainment (β=0.007). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs151181 (CLN3) Source: https://orviva.ai/learn/snps/rs151181 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Bipolar disorder or body mass index (β=0.027). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Crohn's disease (OR=1.07). [GWAS Catalog] References: PMID:21102463; GWAS Catalog; GCST000879 ## rs151235402 (CSNK2A1 - TCF15) Source: https://orviva.ai/learn/snps/rs151235402 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) (OR=0.15). [GWAS Catalog] - **TT** (increased): T allele associated with increased Hip index (β=0.074). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475356 ## rs1515108 (NYAP2 - MIR5702) Source: https://orviva.ai/learn/snps/rs1515108 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Triglycerides in medium LDL (UKB data field 23543) (β=0.033). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-hip ratio (β=0.029). [GWAS Catalog] References: PMID:25673412; GWAS Catalog; GCST004064 ## rs1516725 (ETV5, DGKG) Source: https://orviva.ai/learn/snps/rs1516725 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (β=0.047). [GWAS Catalog] - **CC** (typical): C allele associated with increased HDL cholesterol levels (β=0.030). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501112 ## rs1517572 (LINC02742) Source: https://orviva.ai/learn/snps/rs1517572 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (typical / lower): C allele associated with slightly decreased risk of Sleep duration (OR=0.81). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Osteoarthritis of the hip or knee (OR=1.04). [GWAS Catalog] References: PMID:34450027; GWAS Catalog; GCST90034521 ## rs1520625 (LINC01811) Source: https://orviva.ai/learn/snps/rs1520625 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs1534696 (SNX10) Source: https://orviva.ai/learn/snps/rs1534696 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist-hip index (β=0.044). [GWAS Catalog] - **AA** (typical): A allele associated with increased HDL cholesterol (β=0.019). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs153701 (PEPD) Source: https://orviva.ai/learn/snps/rs153701 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist circumference adjusted for body mass index (β=0.023). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.034). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs1537370 (CDKN2B-AS1) Source: https://orviva.ai/learn/snps/rs1537370 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with increased Saturated fatty acids levels (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased systolic blood pressure (SBP, minimum, inv-normal transformed) (β=0.018). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480707 ## rs1544410 (VDR) Source: https://orviva.ai/learn/snps/rs1544410 (curated, human-reviewed; category: Nutrition; effect allele A) - **AA** (increased): VDR BsmI bb genotype. Altered vitamin D receptor function; may need higher vitamin D intake for bone health. - **GA / AG** (typical): VDR BsmI Bb genotype. Intermediate vitamin D receptor activity. - **GG** (typical): VDR BsmI BB genotype. Normal vitamin D receptor function. References: PMID:15611723 ## rs1549293 (KAT8) Source: https://orviva.ai/learn/snps/rs1549293 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.018). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglycerides in small VLDL (β=0.010). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs1550270 (MSMO1) Source: https://orviva.ai/learn/snps/rs1550270 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.005). [GWAS Catalog] - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.016). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs1555133 (NOL4L) Source: https://orviva.ai/learn/snps/rs1555133 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.006). [GWAS Catalog] - **GG** (typical): G allele associated with increased Depression (β=0.017). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs1557765 (KCNJ11) Source: https://orviva.ai/learn/snps/rs1557765 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.31). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (MTAG) (β=0.012). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310294 ## rs1561073 (VGLL4) Source: https://orviva.ai/learn/snps/rs1561073 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.021). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.014). [GWAS Catalog] References: PMID:37069358; GWAS Catalog; GCST90244098 ## rs1563352 (LYPLAL1-AS1) Source: https://orviva.ai/learn/snps/rs1563352 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for body mass index (β=0.044). [GWAS Catalog] - **AA** (typical): A allele associated with increased Non-HDL cholesterol levels (β=0.012). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239670 ## rs1564981 (LINC02128 - LINC02127) Source: https://orviva.ai/learn/snps/rs1564981 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Lumbar spine bone mineral density (β=0.040). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.018). [GWAS Catalog] References: PMID:28892062; GWAS Catalog; GCST004904 ## rs1572993 (CNTN2) Source: https://orviva.ai/learn/snps/rs1572993 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.018). [GWAS Catalog] - **GG** (typical): G allele associated with increased Pallidum iron levels (R2* MRI) (β=0.040). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551868 ## rs157581 (TOMM40) Source: https://orviva.ai/learn/snps/rs157581 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Aging (β=0.016). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of MOB-like protein phocein level in Chronic kidney disease with hypertension an... (OR=0.57). [GWAS Catalog] References: PMID:35870639; GWAS Catalog; GCST90235225 ## rs157595 (APOC1 - APOC1P1) Source: https://orviva.ai/learn/snps/rs157595 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Concentration of VLDL particles (β=0.060). [GWAS Catalog] - **AA** (typical): A allele associated with increased Polyunsaturated fatty acid levels (β=0.071). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092939 ## rs157935 (LINC-PINT, LINC00513) Source: https://orviva.ai/learn/snps/rs157935 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.012). [GWAS Catalog] - **TT** (slightly elevated): T allele associated with slightly increased risk of Basal cell carcinoma (OR=1.21). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs1582931 (PRDM6 - CEP120) Source: https://orviva.ai/learn/snps/rs1582931 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.021). [GWAS Catalog] - **AA** (typical): A allele associated with increased Diastolic blood pressure (MTAG) (β=0.020). [GWAS Catalog] References: PMID:39537608; GWAS Catalog; GCST90449057 ## rs1589163 (ADAMTS3 - HNRNPA1P67) Source: https://orviva.ai/learn/snps/rs1589163 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased height (mean, inv-normal transformed) (β=0.058). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.10). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479635 ## rs1593304 (CAPZA1P4 - PLXNA4) Source: https://orviva.ai/learn/snps/rs1593304 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with slightly decreased risk of Schizophrenia (OR=0.94). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.012). [GWAS Catalog] References: PMID:35396580; GWAS Catalog; GCST90128471 ## rs160631 (CILK1) Source: https://orviva.ai/learn/snps/rs160631 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] - **GG** (increased): G allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.017). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs1621 (MET) Source: https://orviva.ai/learn/snps/rs1621 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.008). [GWAS Catalog] - **AA** (typical): A allele associated with increased Linoleic acid to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501171 ## rs1635404 (TRAP1) Source: https://orviva.ai/learn/snps/rs1635404 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.029). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.010). [GWAS Catalog] References: PMID:40645996; GWAS Catalog; GCST90624411 ## rs1635852 (JAZF1) Source: https://orviva.ai/learn/snps/rs1635852 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Type 2 diabetes (PheCode 250.2) (β=0.067). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.012). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475667 ## rs1635853 (JAZF1) Source: https://orviva.ai/learn/snps/rs1635853 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Waist circumference adjusted for body mass index (β=0.032). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triglycerides to Total Lipids in Small VLDL percentage (β=0.010). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012226 ## rs1650505 (LINC02227 - EBF1) Source: https://orviva.ai/learn/snps/rs1650505 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.041). [GWAS Catalog] - **AA** (high): A allele associated with substantially increased risk of Pericardial adipose tissue adjusted for height and weight (OR=6.10). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs1650527 (LINC02227 - EBF1) Source: https://orviva.ai/learn/snps/rs1650527 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.014). [GWAS Catalog] - **TT** (typical): T allele associated with increased High density lipoprotein cholesterol levels (β=0.021). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239652 ## rs1662185 (PRDX5 - CCDC88B) Source: https://orviva.ai/learn/snps/rs1662185 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.021). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.023). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs1662904 (KIAA1328) Source: https://orviva.ai/learn/snps/rs1662904 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs1672992 (HPN, HPN-AS1) Source: https://orviva.ai/learn/snps/rs1672992 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.032). [GWAS Catalog] - **CC** (typical): C allele associated with increased Calcium (maximum, inv-norm transformed) (β=0.035). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479529 ## rs167479 (RGL3) Source: https://orviva.ai/learn/snps/rs167479 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.35). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Diastolic blood pressure (BMI unadjusted) (OR=0.53). [GWAS Catalog] References: PMID:39048560; GWAS Catalog; GCST90335164 ## rs1684608 (MGRN1) Source: https://orviva.ai/learn/snps/rs1684608 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Free Cholesterol to Total Lipids in Large LDL percentage (β=0.020). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.009). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012106 ## rs16853094 (LINC01997 - MECOM) Source: https://orviva.ai/learn/snps/rs16853094 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.016). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Asthma or chronic rhinosinusitis (OR=1.03). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662886 ## rs16891982 (SLC45A2) Source: https://orviva.ai/learn/snps/rs16891982 (curated, human-reviewed; category: Ancestry; effect allele G) - **GG** (typical / lower): SLC45A2 variant associated with lighter skin and hair. Nearly fixed in European populations. - **GC / CG** (typical / lower): Heterozygous SLC45A2. Mixed pigmentation signal. - **CC** (typical / lower): Ancestral SLC45A2. Common in non-European populations. References: PMID:17182896; 1000 Genomes ## rs16895971 (LCORL) Source: https://orviva.ai/learn/snps/rs16895971 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.074). [GWAS Catalog] - **TT** (typical): T allele associated with increased Systolic blood pressure (β=0.013). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662908 ## rs1692821 (FDFT1 - CTSB) Source: https://orviva.ai/learn/snps/rs1692821 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Educational attainment (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with increased Saturated fatty acid levels (β=0.034). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs16947 (CYP2D6) Source: https://orviva.ai/learn/snps/rs16947 (curated, human-reviewed; category: Drug response; effect allele A) - **AA** (typical): CYP2D6 2850C>T (R296C) homozygous. Shared variant in *2, *8, *11, *12, *14, *17, *29, *41 haplotypes. - **GA / AG** (typical): CYP2D6 2850C>T heterozygous. Shared variant in multiple star alleles. - **GG** (typical): CYP2D6 reference at position 2850. References: CPIC; PharmVar ## rs16948048 (ZNF652-AS1) Source: https://orviva.ai/learn/snps/rs16948048 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.030). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.22). [GWAS Catalog] References: PMID:27841878; GWAS Catalog; GCST007094 ## rs16958477 (LOXL1, LOXL1-AS1) Source: https://orviva.ai/learn/snps/rs16958477 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Height (β=0.033). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Atrial fibrillation (OR=1.02). [GWAS Catalog] References: PMID:40050429; GWAS Catalog; GCST90559230 ## rs16964258 (MIR4713HG, CYP19A1) Source: https://orviva.ai/learn/snps/rs16964258 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.048). [GWAS Catalog] - **AA** (typical): A allele associated with increased High-density lipoprotein levels (β=0.013). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662894 ## rs16967103 (LINC02694) Source: https://orviva.ai/learn/snps/rs16967103 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Insomnia (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Crohn's disease (OR=1.09). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131903 ## rs16969990 (SKAP1) Source: https://orviva.ai/learn/snps/rs16969990 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased Omega-6 fatty acids to total fatty acids percentage (β=0.030). [GWAS Catalog] - **CC** (typical): C allele associated with increased HDL cholesterol levels (β=0.025). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501225 ## rs16975758 (CALM2P1 - CASC17) Source: https://orviva.ai/learn/snps/rs16975758 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.039). [GWAS Catalog] - **GG** (typical): G allele associated with increased HDL cholesterol levels (β=0.012). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs16982345 (GDF15 - LRRC25) Source: https://orviva.ai/learn/snps/rs16982345 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (increased): G allele associated with increased Body mass index (β=0.012). [GWAS Catalog] - **AA** (typical): A allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs16987303 (ZNF471) Source: https://orviva.ai/learn/snps/rs16987303 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs16992771 (KDM4B) Source: https://orviva.ai/learn/snps/rs16992771 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.011). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (standard GWA) (OR=0.31). [GWAS Catalog] References: PMID:37106081; GWAS Catalog; GCST90267304 ## rs16998073 (PRDM8 - FGF5) Source: https://orviva.ai/learn/snps/rs16998073 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (typical): A allele associated with increased Systolic blood pressure (β=0.050). [GWAS Catalog] - **TT** (slightly elevated): T allele associated with slightly increased risk of Mean arterial pressure (BMI adjusted) (OR=1.31). [GWAS Catalog] References: PMID:39048560; GWAS Catalog; GCST90335169 ## rs17010957 (ARHGAP24) Source: https://orviva.ai/learn/snps/rs17010957 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.031). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (BMI adjusted) (OR=0.77). [GWAS Catalog] References: PMID:39048560; GWAS Catalog; GCST90335163 ## rs1701704 (IKZF4) Source: https://orviva.ai/learn/snps/rs1701704 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (slightly elevated): T allele associated with slightly increased risk of Type 1 diabetes (OR=1.25). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.011). [GWAS Catalog] References: PMID:21829393; GWAS Catalog; GCST001191 ## rs17032696 (CAMKMT - LINC01833) Source: https://orviva.ai/learn/snps/rs17032696 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (high): A allele associated with substantially increased risk of Spherical equivalent or myopia (age of diagnosis) (OR=5.77). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.004). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs17036160 (PPARG) Source: https://orviva.ai/learn/snps/rs17036160 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Type 2 diabetes (OR=0.10). [GWAS Catalog] - **TT** (increased): T allele associated with increased Fasting insulin adjusted for BMI (β=0.072). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs17041868 (BCL2L11, MIR4435-2HG) Source: https://orviva.ai/learn/snps/rs17041868 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.030). [GWAS Catalog] - **TT** (typical): T allele associated with increased HDL cholesterol levels (β=0.025). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs17066856 (MC4R - MRPS5P4) Source: https://orviva.ai/learn/snps/rs17066856 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.035). [GWAS Catalog] - **TT** (typical): T allele associated with increased High-density lipoprotein levels (MTAG) (β=0.027). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179147 ## rs17080091 (PLEKHG1) Source: https://orviva.ai/learn/snps/rs17080091 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical / lower): C allele associated with slightly decreased risk of Mean arterial pressure (BMI adjusted) (OR=0.91). [GWAS Catalog] - **TT** (typical): T allele associated with increased Coronary artery disease (β=0.054). [GWAS Catalog] References: PMID:29212778; GWAS Catalog; GCST005195 ## rs1708299 (JAZF1) Source: https://orviva.ai/learn/snps/rs1708299 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.040). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cholesterol to Total Lipids in Large LDL percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501147 ## rs1711161 (STAG1) Source: https://orviva.ai/learn/snps/rs1711161 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.026). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking cessation (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243980 ## rs1711171 (PCCB) Source: https://orviva.ai/learn/snps/rs1711171 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Cholesteryl Esters to Total Lipids in Very Small VLDL percentage (β=0.030). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.019). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501321 ## rs17114036 (PLPP3) Source: https://orviva.ai/learn/snps/rs17114036 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with marginally increased risk of Coronary heart disease (OR=1.17). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.013). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs17138358 (SNX13) Source: https://orviva.ai/learn/snps/rs17138358 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (typical): G allele associated with increased HDL cholesterol levels (β=0.027). [GWAS Catalog] - **CC** (typical): C allele associated with increased Linoleic acid to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501171 ## rs17145750 (MLXIPL) Source: https://orviva.ai/learn/snps/rs17145750 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Triglyceride to HDL cholesterol ratio (OR=0.14). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.013). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs17163345 (MIA3) Source: https://orviva.ai/learn/snps/rs17163345 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with increased Omega-6 fatty acids to omega-3 fatty acids ratio (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heart failure (β=0.024). [GWAS Catalog] References: PMID:40195560; GWAS Catalog; GCST90455657 ## rs171697 (NIHCOLE - RNU6-334P) Source: https://orviva.ai/learn/snps/rs171697 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Educational attainment (β=0.015). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Migraine or type 2 diabetes (OR=1.03). [GWAS Catalog] References: PMID:36292730; GWAS Catalog; GCST90244660 ## rs17170827 (ELMO1-AS1, ELMO1) Source: https://orviva.ai/learn/snps/rs17170827 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs17173637 (AOC1) Source: https://orviva.ai/learn/snps/rs17173637 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.026). [GWAS Catalog] - **TT** (typical): T allele associated with increased HDL cholesterol (β=0.029). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs17185536 (PRDX2P4 - SIM1) Source: https://orviva.ai/learn/snps/rs17185536 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.029). [GWAS Catalog] - **CC** (typical): C allele associated with increased total cholesterol (mean, inv-norm transformed) (β=0.025). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480715 ## rs17207986 (TNXB) Source: https://orviva.ai/learn/snps/rs17207986 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (high): G allele associated with substantially increased risk of Ulcerative colitis (OR=3.95). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.010). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs17208671 (TSBP1-AS1) Source: https://orviva.ai/learn/snps/rs17208671 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Psoriasis (OR=0.15). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.017). [GWAS Catalog] References: PMID:39885523; GWAS Catalog; GCST90565134 ## rs17216707 (BCAS1 - CYP24A1) Source: https://orviva.ai/learn/snps/rs17216707 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **CC** (typical): C allele associated with increased Calcium levels (β=0.058). [GWAS Catalog] - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.007). [GWAS Catalog] References: PMID:34272381; GWAS Catalog; GCST90103635 ## rs17217119 (BCAS1 - CYP24A1) Source: https://orviva.ai/learn/snps/rs17217119 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with increased Vitamin D insufficiency (β=0.086). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum urate levels (β=0.022). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319906 ## rs17229285 (PLCL1 - RNU7-147P) Source: https://orviva.ai/learn/snps/rs17229285 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with marginally increased risk of Ulcerative colitis (OR=1.10). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.008). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs17231506 (HERPUD1 - CETP) Source: https://orviva.ai/learn/snps/rs17231506 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of HDL cholesterol (OR=0.24). [GWAS Catalog] - **CC** (typical): C allele associated with increased Serum 25-Hydroxyvitamin D levels (conditioned on BMI) (β=0.019). [GWAS Catalog] References: PMID:25961943; GWAS Catalog; GCST002899 ## rs1724679 (RSRC1) Source: https://orviva.ai/learn/snps/rs1724679 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs17248480 (BANK1) Source: https://orviva.ai/learn/snps/rs17248480 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.51). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.038). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs17264332 (LINC03004) Source: https://orviva.ai/learn/snps/rs17264332 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (slightly elevated): G allele associated with slightly increased risk of Celiac disease (OR=1.29). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Rheumatoid arthritis (OR=0.16). [GWAS Catalog] References: PMID:22057235; GWAS Catalog; GCST005523 ## rs17265513 (ZHX3) Source: https://orviva.ai/learn/snps/rs17265513 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.018). [GWAS Catalog] - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.033). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs17279437 (SLC6A20) Source: https://orviva.ai/learn/snps/rs17279437 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Urine dimethylglycine levels in chronic kidney disease (OR=0.39). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.013). [GWAS Catalog] References: PMID:37277652; GWAS Catalog; GCST90265045 ## rs17280293 (ADGRG6) Source: https://orviva.ai/learn/snps/rs17280293 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (slightly elevated): A allele associated with slightly increased risk of Chronic obstructive pulmonary disease (OR=1.32). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.034). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245844 ## rs1728918 (PPM1G - NRBP1) Source: https://orviva.ai/learn/snps/rs1728918 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with marginally increased risk of Crohn's disease (OR=1.12). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.012). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs1730859 (PRMT6 - NTNG1) Source: https://orviva.ai/learn/snps/rs1730859 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.026). [GWAS Catalog] - **AA** (typical): A allele associated with increased LDL cholesterol (β=0.019). [GWAS Catalog] References: PMID:30275531; GWAS Catalog; GCST006612 ## rs1731243 (KCNK3) Source: https://orviva.ai/learn/snps/rs1731243 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Hypertension (OR=0.12). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.022). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475153 ## rs1738074 (TAGAP-AS1, TAGAP) Source: https://orviva.ai/learn/snps/rs1738074 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **CC** (typical): C allele associated with marginally increased risk of Multiple sclerosis (OR=1.13). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Celiac disease (OR=1.16). [GWAS Catalog] References: PMID:20190752; GWAS Catalog; GCST000612 ## rs17400325 (PDE11A, PDE11A-AS1) Source: https://orviva.ai/learn/snps/rs17400325 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.054). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Myopia (age of diagnosis) (OR=0.14). [GWAS Catalog] References: PMID:29808027; GWAS Catalog; GCST006290 ## rs1741 (PDXDC1) Source: https://orviva.ai/learn/snps/rs1741 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.013). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) (OR=0.20). [GWAS Catalog] References: PMID:24823311; GWAS Catalog; GCST002449 ## rs17410962 (LPL - RPL30P9) Source: https://orviva.ai/learn/snps/rs17410962 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Familial combined hyperlipidemia defined by Consensus criteria (OR=0.19). [GWAS Catalog] - **AA** (typical): A allele associated with increased Linoleic acid percentage of total fatty acids (β=0.069). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454486 ## rs17411031 (LPL - RPL30P9) Source: https://orviva.ai/learn/snps/rs17411031 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **CC** (typical / lower): C allele associated with decreased risk of Metabolic syndrome (OR=0.16). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Fasting saturated fatty acids (OR=0.15). [GWAS Catalog] References: PMID:34610981; GWAS Catalog; GCST90091589 ## rs17411126 (LPL - RPL30P9) Source: https://orviva.ai/learn/snps/rs17411126 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.009). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Metabolic syndrome (OR=0.16). [GWAS Catalog] References: PMID:38201907; GWAS Catalog; GCST90454454 ## rs17451107 (LINC00880) Source: https://orviva.ai/learn/snps/rs17451107 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.029). [GWAS Catalog] - **CC** (typical): C allele associated with increased Phospholipids to Total Lipids in Large LDL percentage (β=0.020). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008994 ## rs174530 (TMEM258, MYRF) Source: https://orviva.ai/learn/snps/rs174530 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Fatty acid(20:4)_[M-H]1- levels (β=0.097). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Triacylglycerol(56:6)_[M+NH4]1+ levels (OR=0.18). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060991 ## rs174534 (MYRF, TMEM258) Source: https://orviva.ai/learn/snps/rs174534 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (typical / lower): G allele associated with decreased risk of Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid) (OR=0.18). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triacylglycerol(56:6)_[M+NH4]1+ levels (β=0.053). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060991 ## rs174535 (TMEM258, MYRF) Source: https://orviva.ai/learn/snps/rs174535 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with increased Plasma omega-3 polyunsaturated fatty acid levels (docosapentaenoic acid) (β=0.070). [GWAS Catalog] - **CC** (typical): C allele associated with increased Free Cholesterol to Total Lipids in Very Large VLDL percentage (β=0.071). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90500575 ## rs174536 (TMEM258, MYRF) Source: https://orviva.ai/learn/snps/rs174536 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (typical): A allele associated with increased Plasma omega-3 polyunsaturated fatty acid levels (alphalinolenic acid) (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triacylglycerol(56:6)_[M+NH4]1+ levels (β=0.041). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060991 ## rs174544 (FADS1, FADS2) Source: https://orviva.ai/learn/snps/rs174544 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **CC** (typical): C allele associated with increased Cholesteryl esters to total lipids ratio in medium HDL (β=0.049). [GWAS Catalog] - **GG** (typical): G allele associated with increased Fatty acid(20:4)_[M-H]1- levels (β=0.076). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060580 ## rs174547 (FADS1) Source: https://orviva.ai/learn/snps/rs174547 (curated, human-reviewed; category: Nutrition; effect allele C) - **CC** (increased): Reduced conversion of ALA to EPA/DHA. Higher omega-3 (fish oil) supplementation may be beneficial. - **TC / CT** (typical): Moderate omega-3 conversion efficiency. - **TT** (typical): Efficient omega-3 fatty acid conversion. References: PMID:21829377; GWAS Catalog ## rs174551 (FADS2, FADS1) Source: https://orviva.ai/learn/snps/rs174551 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **TT** (typical): T allele associated with increased Low density lipoprotein cholesterol levels (β=0.073). [GWAS Catalog] - **GG** (typical): G allele associated with increased Fatty acid(20:4)_[M-H]1- levels (β=0.089). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060580 ## rs174553 (FADS1, FADS2) Source: https://orviva.ai/learn/snps/rs174553 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Ratio of monounsaturated fatty acids to total fatty acids (OR=0.15). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cholesteryl Esters to Total Lipids in Large HDL percentage (β=0.050). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501137 ## rs174554 (FADS2, FADS1) Source: https://orviva.ai/learn/snps/rs174554 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (typical / lower): G allele associated with decreased risk of Free cholesterol in very large HDL (UKB data field 23556) (OR=0.10). [GWAS Catalog] - **TT** (typical): T allele associated with increased Fatty acid(22:5)_[M-H]1- levels (β=0.079). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060584 ## rs174555 (FADS1, FADS2) Source: https://orviva.ai/learn/snps/rs174555 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid) (OR=0.39). [GWAS Catalog] - **CC** (typical): C allele associated with increased Cholesteryl Esters to Total Lipids in Small HDL percentage (β=0.020). [GWAS Catalog] References: PMID:24823311; GWAS Catalog; GCST002444 ## rs174556 (FADS1, FADS2) Source: https://orviva.ai/learn/snps/rs174556 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased low density lipoprotein cholesterol (LDLC, mean, inv-norm transformed) (β=0.027). [GWAS Catalog] - **GG** (typical): G allele associated with increased Fatty acid(20:4)_[M-H]1- levels (β=0.070). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475416 ## rs174562 (FADS2, FADS1) Source: https://orviva.ai/learn/snps/rs174562 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.052). [GWAS Catalog] - **AA** (typical): A allele associated with increased Fatty acid(22:5)_[M-H]1- levels (β=0.059). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060584 ## rs174565 (FADS2, FADS1) Source: https://orviva.ai/learn/snps/rs174565 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Triacylglycerol(56:6)_[M+NH4]1+ levels (β=0.055). [GWAS Catalog] - **TT** (typical): T allele associated with increased Fatty acid(22:4)_[M-H]1- levels (β=0.054). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060585 ## rs174567 (FADS2, FADS1) Source: https://orviva.ai/learn/snps/rs174567 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased HDL cholesterol levels (β=0.070). [GWAS Catalog] - **AA** (typical): A allele associated with increased Fatty acid(20:4)_[M-H]1- levels (β=0.081). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060580 ## rs174569 (FADS2, FADS1) Source: https://orviva.ai/learn/snps/rs174569 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Fatty acid(20:4)_[M-H]1- levels (β=0.042). [GWAS Catalog] - **TT** (typical): T allele associated with increased High-density lipoprotein levels (MTAG) (β=0.073). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060580 ## rs174572 (FADS2) Source: https://orviva.ai/learn/snps/rs174572 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with increased Fatty acid(20:4)_[M-H]1- levels (β=0.056). [GWAS Catalog] - **AA** (typical): A allele associated with increased Phosphatidylglycerol(34:0)_[M-H]1- levels (β=0.057). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060707 ## rs174573 (FADS2) Source: https://orviva.ai/learn/snps/rs174573 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **AA** (typical): A allele associated with increased Triacylglycerol(56:6)_[M+NH4]1+ levels (β=0.052). [GWAS Catalog] - **TT** (typical): T allele associated with increased Fatty acid(20:4)_[M-H]1- levels (β=0.056). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060580 ## rs174579 (FADS2) Source: https://orviva.ai/learn/snps/rs174579 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (typical): A allele associated with increased Fatty acid(20:4)_[M-H]1- levels (β=0.086). [GWAS Catalog] - **CC** (typical): C allele associated with increased Phosphatidylglycerol(36:0)_[M-H]1- levels (β=0.054). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060759 ## rs174580 (FADS2) Source: https://orviva.ai/learn/snps/rs174580 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Triglycerides to total lipids ratio in IDL (β=0.088). [GWAS Catalog] - **CC** (typical): C allele associated with increased Fatty acid(22:4)_[M-H]1- levels (β=0.067). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092842 ## rs174581 (FADS2) Source: https://orviva.ai/learn/snps/rs174581 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Cholesteryl esters to total lipids in very small VLDL percentage (UKB data fi... (β=0.094). [GWAS Catalog] - **GG** (typical): G allele associated with increased Fatty acid(20:4)_[M-H]1- levels (β=0.053). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060580 ## rs174582 (FADS2) Source: https://orviva.ai/learn/snps/rs174582 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (typical / lower): T allele associated with decreased risk of Fatty acid(20:4)_[M-H]1- levels (OR=0.14). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Phosphatidylglycerol(36:0)_[M-H]1- levels (OR=0.17). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060759 ## rs174585 (FADS2) Source: https://orviva.ai/learn/snps/rs174585 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (typical): A allele associated with increased Fatty acid(20:4)_[M-H]1- levels (β=0.093). [GWAS Catalog] - **TT** (typical): T allele associated with increased Phosphatidylglycerol(36:0)_[M-H]1- levels (β=0.052). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060759 ## rs174592 (FADS2) Source: https://orviva.ai/learn/snps/rs174592 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Male-pattern baldness (β=0.031). [GWAS Catalog] - **AA** (typical): A allele associated with increased Free cholesterol to total lipids ratio in chylomicrons and extremely large VLDL (β=0.038). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302167 ## rs17474401 (SIK2) Source: https://orviva.ai/learn/snps/rs17474401 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.029). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum urate levels (β=0.022). [GWAS Catalog] References: PMID:39406924; GWAS Catalog; GCST90455669 ## rs1748195 (DOCK7) Source: https://orviva.ai/learn/snps/rs1748195 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (typical): G allele associated with increased Polyunsaturated fatty acids to total fatty acids percentage (β=0.030). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglycerides (β=0.060). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007142 ## rs17482753 (LPL - RPL30P9) Source: https://orviva.ai/learn/snps/rs17482753 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (typical / lower): G allele associated with decreased risk of Triglycerides (OR=0.19). [GWAS Catalog] - **TT** (typical): T allele associated with increased Omega-6 fatty acids to omega-3 fatty acids ratio (β=0.050). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501224 ## rs17522122 (AKAP6) Source: https://orviva.ai/learn/snps/rs17522122 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Educational attainment (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.034). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs17558745 (TGFB2) Source: https://orviva.ai/learn/snps/rs17558745 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased diastolic blood pressure (DBP, mean, inv-normal transformed) (β=0.029). [GWAS Catalog] - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.018). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479581 ## rs17567417 (LTBP1) Source: https://orviva.ai/learn/snps/rs17567417 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.029). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Knee osteoarthritis (OR=1.07). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245845 ## rs17576323 (CALCRL-AS1) Source: https://orviva.ai/learn/snps/rs17576323 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist circumference adjusted for body mass index (β=0.025). [GWAS Catalog] - **TT** (typical): T allele associated with increased High density lipoprotein cholesterol levels (β=0.021). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020029 ## rs17585887 (LINC01625 - ATP5PBP6) Source: https://orviva.ai/learn/snps/rs17585887 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased High density lipoprotein cholesterol levels (β=0.021). [GWAS Catalog] - **TT** (typical): T allele associated with increased Omega-6 fatty acids to total fatty acids percentage (UKB data field 23452) (β=0.037). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269549 ## rs17598658 (H2BC6) Source: https://orviva.ai/learn/snps/rs17598658 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Cognitive aspects of educational attainment (β=0.096). [GWAS Catalog] - **CC** (typical): C allele associated with increased Breast cancer (β=0.073). [GWAS Catalog] References: PMID:33414549; GWAS Catalog; GCST90011875 ## rs17602038 (DRD2 - TMPRSS5) Source: https://orviva.ai/learn/snps/rs17602038 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Problematic alcohol use (MTAG) (β=0.020). [GWAS Catalog] - **TT** (typical): T allele associated with increased Major depressive disorder (broad) (β=0.026). [GWAS Catalog] References: PMID:32451486; GWAS Catalog; GCST010544 ## rs17616063 (UNGP1 - HNRNPA1L3) Source: https://orviva.ai/learn/snps/rs17616063 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with increased Low-density lipoprotein levels (MTAG) (β=0.022). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs17634791 (FER1L5) Source: https://orviva.ai/learn/snps/rs17634791 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.15). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.008). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132904 ## rs17637472 (ZNF652-AS1) Source: https://orviva.ai/learn/snps/rs17637472 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Hypertension (β=0.044). [GWAS Catalog] - **GG** (increased): G allele associated with increased Childhood body mass index (β=0.012). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468135 ## rs17641524 (DENND1B) Source: https://orviva.ai/learn/snps/rs17641524 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with marginally increased risk of Depression (OR=1.02). [GWAS Catalog] - **TT** (increased): T allele associated with increased Educational attainment (MTAG) (β=0.011). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006571 ## rs17643057 (EBF1) Source: https://orviva.ai/learn/snps/rs17643057 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Male-pattern baldness (OR=0.21). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heart failure (β=0.020). [GWAS Catalog] References: PMID:40195560; GWAS Catalog; GCST90455657 ## rs17650301 (POLG2, MILR1) Source: https://orviva.ai/learn/snps/rs17650301 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.017). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.005). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs17696736 (NAA25) Source: https://orviva.ai/learn/snps/rs17696736 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (slightly elevated): G allele associated with slightly increased risk of Type 1 diabetes (OR=1.22). [GWAS Catalog] - **AA** (increased): A allele associated with increased Parental longevity (combined parental attained age, Martingale residuals) (β=0.015). [GWAS Catalog] References: PMID:29227965; GWAS Catalog; GCST006697 ## rs17699030 (DOCK6-AS1, DOCK6) Source: https://orviva.ai/learn/snps/rs17699030 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Phosphatidylcholine levels (OR=0.13). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Polyunsaturated fatty acids levels (UKB data field 23446) (OR=0.10). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092937 ## rs17703883 (MIR4713HG, CYP19A1) Source: https://orviva.ai/learn/snps/rs17703883 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.015). [GWAS Catalog] - **CC** (typical): C allele associated with increased Average diameter for HDL particles (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501118 ## rs17705966 (CALCRL-AS1) Source: https://orviva.ai/learn/snps/rs17705966 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased White matter hyperintensity volume (adjusted for hypertension) (β=0.045). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs17712705 (RNU6-523P - RPL12P8) Source: https://orviva.ai/learn/snps/rs17712705 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Systolic blood pressure (MTAG) (β=0.014). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Chronotype (OR=1.03). [GWAS Catalog] References: PMID:30696823; GWAS Catalog; GCST007576 ## rs17720293 (ZKSCAN4) Source: https://orviva.ai/learn/snps/rs17720293 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.013). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Schizophrenia (OR=1.20). [GWAS Catalog] References: PMID:30285260; GWAS Catalog; GCST007201 ## rs17724992 (PGPEP1) Source: https://orviva.ai/learn/snps/rs17724992 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Systolic blood pressure (β=0.017). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.018). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs17731 (KLF6) Source: https://orviva.ai/learn/snps/rs17731 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.012). [GWAS Catalog] - **GG** (typical / lower): G allele associated with slightly decreased risk of Schizophrenia (OR=0.94). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs17747622 (ABI1) Source: https://orviva.ai/learn/snps/rs17747622 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.012). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.016). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs17749561 (PHLPP1 - BCL2) Source: https://orviva.ai/learn/snps/rs17749561 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (slightly elevated): G allele associated with slightly increased risk of Follicular lymphoma (OR=1.34). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.014). [GWAS Catalog] References: PMID:25279986; GWAS Catalog; GCST002643 ## rs17788853 (MTCH2) Source: https://orviva.ai/learn/snps/rs17788853 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.023). [GWAS Catalog] - **AA** (typical): A allele associated with increased High density lipoprotein cholesterol levels (β=0.046). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019510 ## rs17789218 (PRDX2P4 - SIM1) Source: https://orviva.ai/learn/snps/rs17789218 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.033). [GWAS Catalog] - **CC** (typical): C allele associated with increased Non-HDL cholesterol levels (β=0.023). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239670 ## rs17817964 (FTO) Source: https://orviva.ai/learn/snps/rs17817964 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (adult) (β=0.069). [GWAS Catalog] - **CC** (typical): C allele associated with increased Takes medication for high blood pressure? (β=0.069). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475216 ## rs17822931 (ABCC11) Source: https://orviva.ai/learn/snps/rs17822931 (curated, human-reviewed; category: Trait; effect allele C) - **CC** (typical / lower): Wet earwax type. Also associated with typical body odor. - **CT / TC** (typical / lower): Wet earwax type (dominant trait). - **TT** (typical / lower): Dry earwax type. Reduced body odor. Common in East Asian populations. References: PMID:16444273; OMIM:607040 ## rs1782652 (ZMIZ1) Source: https://orviva.ai/learn/snps/rs1782652 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.012). [GWAS Catalog] - **AA** (typical): A allele associated with increased Polyunsaturated fatty acid levels (β=0.010). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs17826816 (ADCY2) Source: https://orviva.ai/learn/snps/rs17826816 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Bipolar disorder (OR=1.14). [GWAS Catalog] - **AA** (high): A allele associated with substantially increased risk of Intelligence (OR=5.64). [GWAS Catalog] References: PMID:29942086; GWAS Catalog; GCST006250 ## rs1783541 (SCYL1) Source: https://orviva.ai/learn/snps/rs1783541 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.009). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.048). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs17855988 (ELN, ELN-AS1) Source: https://orviva.ai/learn/snps/rs17855988 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Standing height (UKB data field 50) (β=0.015). [GWAS Catalog] - **GG** (typical): G allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.020). [GWAS Catalog] References: PMID:37069358; GWAS Catalog; GCST90244098 ## rs1788030 (TCF4) Source: https://orviva.ai/learn/snps/rs1788030 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (increased): T allele associated with increased Insomnia (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Alcohol consumption (drinks per month) (UKB data field 1578, 4424) (β=0.015). [GWAS Catalog] References: PMID:32193382; GWAS Catalog; GCST90132992 ## rs17884712 (CYP2C19) Source: https://orviva.ai/learn/snps/rs17884712 (curated, human-reviewed; category: Drug response; effect allele A) - **AA** (reduced): CYP2C19*9 homozygous (R144H). Decreased CYP2C19 function. - **GA / AG** (reduced): CYP2C19*9 carrier. Decreased function allele. - **GG** (typical): No CYP2C19*9 variant detected. References: CPIC; PharmVar ## rs1788808 (NPC1, RMC1) Source: https://orviva.ai/learn/snps/rs1788808 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (β=0.023). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-6 fatty acids to omega-3 fatty acids ratio (β=0.010). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs1789166 (LTO1) Source: https://orviva.ai/learn/snps/rs1789166 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Height (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum urate levels (β=0.020). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319904 ## rs1789882 (ADH1B) Source: https://orviva.ai/learn/snps/rs1789882 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist-hip ratio (β=0.016). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Alcohol dependence (OR=1.30). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008996 ## rs1797912 (PPARG) Source: https://orviva.ai/learn/snps/rs1797912 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist-hip index (β=0.030). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total cholesterol levels (β=0.029). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs1799853 (CYP2C9) Source: https://orviva.ai/learn/snps/rs1799853 (curated, human-reviewed; category: Drug response; effect allele T) - **CT / TC** (reduced): CYP2C9*2 carrier. Reduced metabolism of warfarin, NSAIDs, and phenytoin; lower dose may be needed. - **TT** (reduced): CYP2C9*2 homozygous. Significantly reduced drug metabolism. - **CC** (typical): Normal CYP2C9*2 function. Standard warfarin metabolism. References: CPIC; PMID:25099164; PharmGKB ## rs1799945 (HFE) Source: https://orviva.ai/learn/snps/rs1799945 (curated, human-reviewed; category: Nutrition; effect allele G) - **GG** (decreased): HFE H63D homozygous. Moderately increased iron absorption; mild hemochromatosis risk. - **CG / GC** (typical): HFE H63D carrier. Slightly increased iron absorption. - **CC** (typical): Normal HFE H63D. Typical iron metabolism. References: PMID:8696333; ClinVar ## rs1799963 (F2) Source: https://orviva.ai/learn/snps/rs1799963 (curated, human-reviewed; category: Health risk; effect allele A) - **AA** (high): Prothrombin G20210A homozygous. Significantly increased thrombosis risk. - **GA / AG** (elevated): Prothrombin G20210A heterozygous. 2-5x increased VTE risk. - **GG** (typical / lower): Normal prothrombin. Typical clotting risk. References: PMID:8679209; ClinVar ## rs1800414 (OCA2) Source: https://orviva.ai/learn/snps/rs1800414 (curated, human-reviewed; category: Ancestry; effect allele C) - **CC** (typical / lower): OCA2 His615Arg. Associated with lighter skin in East Asian populations. - **TC / CT** (typical / lower): Heterozygous OCA2 variant. - **TT** (typical / lower): Ancestral OCA2 variant. References: PMID:17952075; 1000 Genomes ## rs1800460 (TPMT) Source: https://orviva.ai/learn/snps/rs1800460 (curated, human-reviewed; category: Drug response; effect allele A) - **AA** (increased): TPMT*3B homozygous. Deficient TPMT activity; thiopurines (azathioprine, mercaptopurine) require major dose reduction. - **GA / AG** (increased): TPMT*3B carrier. Intermediate TPMT activity; moderate dose reduction needed. - **GG** (typical): Normal TPMT activity. Standard thiopurine dosing. References: CPIC; PMID:21270794; PharmGKB ## rs1800462 (TPMT) Source: https://orviva.ai/learn/snps/rs1800462 (imported from public databases, not individually reviewed; category: Drug response; effect allele G) - **CC** (typical): Normal TPMT function at *2 position. - **CG** (increased): TPMT *2 carrier. No enzyme function from this allele. Reduced thiopurine dose recommended. - **GG** (increased): TPMT *2 homozygous. No enzyme function. Avoid thiopurines or use 10% dose. References: 23133420; 22385887; 18685564; 18547414; SNPedia; ClinVar; gnomAD ## rs1800562 (HFE) Source: https://orviva.ai/learn/snps/rs1800562 (curated, human-reviewed; category: Nutrition; effect allele A) - **AA** (decreased): HFE C282Y homozygous. High risk for hereditary hemochromatosis (iron overload). Monitor iron/ferritin levels; avoid iron supplements. - **GA / AG** (decreased): HFE C282Y carrier. Mildly increased iron absorption. Monitor iron levels periodically. - **GG** (typical): Normal iron metabolism. References: PMID:8696333; ClinVar; OMIM:235200 ## rs1800629 (TNF) Source: https://orviva.ai/learn/snps/rs1800629 (curated, human-reviewed; category: Health risk; effect allele A) - **AA** (elevated): TNF-alpha -308G>A homozygous. Significantly elevated TNF-alpha production; increased risk for autoimmune and inflammatory conditions. - **GA / AG** (slightly elevated): Moderately elevated TNF-alpha. Increased inflammatory tendency. - **GG** (typical / lower): Normal TNF-alpha levels. References: PMID:8875706; GWAS Catalog ## rs1800795 (IL6) Source: https://orviva.ai/learn/snps/rs1800795 (curated, human-reviewed; category: Health risk; effect allele C) - **CC** (slightly elevated): IL-6 -174G>C. Higher baseline IL-6 levels; increased systemic inflammation and cardiovascular risk. - **CG / GC** (typical): Intermediate IL-6 levels. - **GG** (typical / lower): Lower IL-6 expression. Reduced inflammatory baseline. References: PMID:9620771; GWAS Catalog ## rs1800961 (HNF4A) Source: https://orviva.ai/learn/snps/rs1800961 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (OR=0.28). [GWAS Catalog] - **TT** (typical): T allele associated with increased Omega-6 fatty acids levels (β=0.070). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501223 ## rs1801020 (F12, GRK6) Source: https://orviva.ai/learn/snps/rs1801020 (imported from public databases, not individually reviewed; category: Drug response; effect allele A) - **AA** (reduced): A allele associated with decreased risk of Kininostatin levels (OR=0.38). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of BMP and activin membrane-bound inhibitor homolog level in Chronic kidney dise... (OR=0.60). [GWAS Catalog] References: PMID:34648354; GWAS Catalog; GCST90248200 ## rs1801131 (MTHFR) Source: https://orviva.ai/learn/snps/rs1801131 (curated, human-reviewed; category: Nutrition; effect allele G) - **GG** (increased): MTHFR A1298C homozygous. Reduced enzyme activity; combined with C677T increases homocysteine risk. - **TG / GT** (typical): MTHFR A1298C heterozygous. Mildly reduced activity. - **TT** (typical): Normal MTHFR at A1298C position. References: PMID:10444342; ClinVar ## rs1801133 (MTHFR) Source: https://orviva.ai/learn/snps/rs1801133 (curated, human-reviewed; category: Nutrition; effect allele T) - **TT** (increased): MTHFR C677T homozygous. ~70% reduced enzyme activity. Higher folate/methylfolate needs. Elevated homocysteine risk. - **CT / TC** (increased): MTHFR C677T heterozygous. ~35% reduced enzyme activity. May benefit from methylfolate. - **CC** (typical): Normal MTHFR function. Standard folate metabolism. References: PMID:7647779; ClinVar; OMIM:607093 ## rs1801251 (GIGYF2, KCNJ13) Source: https://orviva.ai/learn/snps/rs1801251 (imported from public databases, not individually reviewed; category: Drug response; effect allele G) - **AA** (typical): A allele associated with increased Coronary artery disease (β=0.042). [GWAS Catalog] - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.003). [GWAS Catalog] References: PMID:34272381; GWAS Catalog; GCST90103635 ## rs1801260 (CLOCK) Source: https://orviva.ai/learn/snps/rs1801260 (curated, human-reviewed; category: Trait; effect allele C) - **CC** (typical / lower): CLOCK gene variant associated with evening chronotype (night owl tendency). - **TC / CT** (typical / lower): Intermediate chronotype. - **TT** (typical / lower): Morning chronotype tendency (early bird). References: PMID:9620771; GWAS Catalog ## rs1801265 (DPYD) Source: https://orviva.ai/learn/snps/rs1801265 (imported from public databases, not individually reviewed; category: Drug response) - **GG** (typical): Genotype GG is associated with decreased metabolism of fluorouracil in people with Neoplasms as compared to genotypes AA + AG. - **AA** (typical): Genotype AA is associated with increased response to fluorouracil in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG. References: PharmGKB ## rs1801282 (PPARG) Source: https://orviva.ai/learn/snps/rs1801282 (curated, human-reviewed; category: Health risk; effect allele C) - **CC** (slightly elevated): May have altered insulin sensitivity. PPARG Pro12Ala affects adipocyte differentiation. - **CG / GC** (typical / lower): One copy of PPARG variant; slightly altered metabolic profile. - **GG** (typical / lower): Typical PPARG function. References: PMID:10466767; GWAS Catalog ## rs1801394 (MTRR) Source: https://orviva.ai/learn/snps/rs1801394 (curated, human-reviewed; category: Nutrition; effect allele G) - **GG** (increased): MTRR A66G homozygous. Reduced methionine synthase reductase activity; may increase homocysteine and affect B12 utilization. - **AG / GA** (typical): MTRR A66G heterozygous. Mildly reduced enzyme activity. - **AA** (typical): Normal MTRR function. References: PMID:12375236 ## rs1801689 (APOH) Source: https://orviva.ai/learn/snps/rs1801689 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical / lower): C allele associated with decreased risk of Cholesterol to Total Lipids in Chylomicrons and Extremely Large VLDL percentage (OR=0.14). [GWAS Catalog] - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.038). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs1804080 (HERC3, HERC3) Source: https://orviva.ai/learn/snps/rs1804080 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (additive genetic model) (β=0.034). [GWAS Catalog] - **CC** (typical): C allele associated with increased High density lipoprotein cholesterol levels (β=0.020). [GWAS Catalog] References: PMID:30778226; GWAS Catalog; GCST007500 ## rs1805007 (MC1R) Source: https://orviva.ai/learn/snps/rs1805007 (curated, human-reviewed; category: Trait; effect allele T) - **TT** (typical / lower): MC1R R151C homozygous. Red hair, fair skin, freckling. Increased melanoma and skin cancer risk. - **CT / TC** (typical / lower): MC1R R151C carrier. May have reddish tones; increased sun sensitivity. - **CC** (typical / lower): Normal MC1R function. References: PMID:11260224; OMIM:155555 ## rs1805008 (MC1R) Source: https://orviva.ai/learn/snps/rs1805008 (curated, human-reviewed; category: Trait; effect allele T) - **TT** (typical / lower): MC1R R160W homozygous. Strong association with red hair, fair skin, and freckling. - **CT / TC** (typical / lower): MC1R R160W carrier. Increased freckling tendency and sun sensitivity. - **CC** (typical / lower): Normal MC1R at this position. References: PMID:11260224; OMIM:155555 ## rs181058325 (CARMIL1, CMAHP) Source: https://orviva.ai/learn/snps/rs181058325 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (slightly elevated): A allele associated with slightly increased risk of Disorders of iron metabolism (PheCode 275.1) (OR=1.34). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total cholesterol levels (β=0.024). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479935 ## rs1813006 (BANK1 - SLC39A8) Source: https://orviva.ai/learn/snps/rs1813006 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Body mass index (β=0.050). [GWAS Catalog] - **GG** (typical): G allele associated with increased Free cholesterol to total lipids ratio in medium LDL (β=0.051). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092909 ## rs1815739 (ACTN3) Source: https://orviva.ai/learn/snps/rs1815739 (curated, human-reviewed; category: Trait; effect allele T) - **CC** (typical / lower): ACTN3 R577R. Full alpha-actinin-3 expression; favors sprint/power performance. - **CT / TC** (typical / lower): ACTN3 R577X heterozygous. Mixed muscle fiber type; balanced athletic profile. - **TT** (typical / lower): ACTN3 X577X. No alpha-actinin-3; may favor endurance over sprint performance. References: PMID:12879365; OMIM:102574 ## rs182050989 (NUDC) Source: https://orviva.ai/learn/snps/rs182050989 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglycerides to Total Lipids in IDL percentage (β=0.060). [GWAS Catalog] - **CC** (typical): C allele associated with increased Ratio of monounsaturated fatty acids to total fatty acids (β=0.084). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501132 ## rs182075939 (CHEK2) Source: https://orviva.ai/learn/snps/rs182075939 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (elevated): G allele associated with moderately increased risk of Polycystic ovary syndrome (adjusted for age) (OR=1.69). [GWAS Catalog] - **AA** (elevated): A allele associated with moderately increased risk of Polycystic ovary syndrome (adjusted for age and BMI) (OR=1.74). [GWAS Catalog] References: PMID:34791234; GWAS Catalog; GCST90044902 ## rs184017 (TOMM40) Source: https://orviva.ai/learn/snps/rs184017 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Metabolic syndrome (β=0.092). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Cerebral amyloid deposition (PET imaging) (OR=0.15). [GWAS Catalog] References: PMID:38201907; GWAS Catalog; GCST90454454 ## rs185139895 (KRT18P9 - CYCSP55) Source: https://orviva.ai/learn/snps/rs185139895 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.043). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hip index (β=0.050). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012229 ## rs185819 (TNXB) Source: https://orviva.ai/learn/snps/rs185819 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.36). [GWAS Catalog] - **TT** (high): T allele associated with substantially increased risk of Height (OR=5.20). [GWAS Catalog] References: PMID:28739976; GWAS Catalog; GCST004776 ## rs1860509 (TBXAS1) Source: https://orviva.ai/learn/snps/rs1860509 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased height (mean, inv-normal transformed) (β=0.030). [GWAS Catalog] - **GG** (typical): G allele associated with increased Systolic blood pressure (β=0.022). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662883 ## rs1861412 (LINC01122) Source: https://orviva.ai/learn/snps/rs1861412 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased Obesity (PheCode 278.1) (β=0.037). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479952 ## rs1863703 (STK36) Source: https://orviva.ai/learn/snps/rs1863703 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.022). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.26). [GWAS Catalog] References: PMID:33230300; GWAS Catalog; GCST90292474 ## rs186606513 (CNNM3-DT, CNNM3) Source: https://orviva.ai/learn/snps/rs186606513 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.062). [GWAS Catalog] - **AA** (typical): A allele associated with increased QT interval (β=0.072). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs186696265 (LPA - PLG) Source: https://orviva.ai/learn/snps/rs186696265 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (elevated): T allele associated with moderately increased risk of Coronary artery disease (OR=1.68). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Total omega-6 fatty acid levels (OR=0.21). [GWAS Catalog] References: PMID:36474045; GWAS Catalog; GCST90132314 ## rs1869525 (COBLL1) Source: https://orviva.ai/learn/snps/rs1869525 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist circumference adjusted for body mass index (β=0.023). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglyceride levels (MTAG) (β=0.017). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020029 ## rs1871395 (SLCO1B1) Source: https://orviva.ai/learn/snps/rs1871395 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.032). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Plasma glycodeoxycholate 3-sulfate levels in chronic kidney disease (OR=0.63). [GWAS Catalog] References: PMID:37277652; GWAS Catalog; GCST90265293 ## rs1871674 (HMGA2) Source: https://orviva.ai/learn/snps/rs1871674 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (increased): A allele associated with increased Height (β=0.059). [GWAS Catalog] - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.023). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs1873625 (BSN) Source: https://orviva.ai/learn/snps/rs1873625 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (MTAG) (β=0.029). [GWAS Catalog] - **CC** (typical): C allele associated with increased Chronic airway obstruction (PheCode 496) (β=0.038). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006571 ## rs187552634 (ADAMTS3 - HNRNPA1P67) Source: https://orviva.ai/learn/snps/rs187552634 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of GC protein levels (OR=0.27). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (baseline) (β=0.043). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90469320 ## rs1883711 (LINC01370 - MAFB) Source: https://orviva.ai/learn/snps/rs1883711 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (typical / lower): G allele associated with decreased risk of Low density lipoprotein cholesterol levels (OR=0.16). [GWAS Catalog] - **CC** (typical): C allele associated with increased Omega-3 fatty acids levels (β=0.070). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501221 ## rs1883783 (SSBP3 - LINC02784) Source: https://orviva.ai/learn/snps/rs1883783 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.014). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.006). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs1883832 (CD40) Source: https://orviva.ai/learn/snps/rs1883832 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with marginally increased risk of Rheumatoid arthritis (OR=1.11). [GWAS Catalog] - **TT** (increased): T allele associated with increased Insomnia (β=0.006). [GWAS Catalog] References: PMID:36333501; GWAS Catalog; GCST90132222 ## rs1884429 (MASP2 - SRM) Source: https://orviva.ai/learn/snps/rs1884429 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (baseline) (β=0.014). [GWAS Catalog] - **CC** (typical): C allele associated with increased Cystatin C levels (β=0.018). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs1887320 (LINC01752 - LINC02871) Source: https://orviva.ai/learn/snps/rs1887320 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased diastolic blood pressure (DBP, mean, inv-normal transformed) (β=0.036). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Mean arterial pressure (BMI unadjusted) (OR=0.47). [GWAS Catalog] References: PMID:39048560; GWAS Catalog; GCST90335168 ## rs188955288 (ZBTB7A) Source: https://orviva.ai/learn/snps/rs188955288 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.022). [GWAS Catalog] - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.019). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs1892425 (SCMH1-DT) Source: https://orviva.ai/learn/snps/rs1892425 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.029). [GWAS Catalog] - **AA** (typical): A allele associated with increased Diastolic blood pressure (β=0.014). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs1892501 (ZMIZ1 - PPIF) Source: https://orviva.ai/learn/snps/rs1892501 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.015). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.022). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454484 ## rs1893458 (INTS5 - C11orf98) Source: https://orviva.ai/learn/snps/rs1893458 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **CC** (increased): C allele associated with increased Waist-hip index (β=0.018). [GWAS Catalog] - **GG** (typical): G allele associated with increased Drinks per week (β=0.005). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs1895617 (LINC01905, LINC01539) Source: https://orviva.ai/learn/snps/rs1895617 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.012). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs190891254 (LINC02796) Source: https://orviva.ai/learn/snps/rs190891254 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.013). [GWAS Catalog] - **TT** (increased): T allele associated with increased Insomnia (β=0.009). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131901 ## rs1913657 (NYAP2 - MIR5702) Source: https://orviva.ai/learn/snps/rs1913657 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased triglyceride (maximum, inv-norm transformed) (β=0.050). [GWAS Catalog] - **TT** (increased): T allele associated with increased Fasting insulin adjusted for BMI (β=0.046). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480717 ## rs1917368 (SNX13) Source: https://orviva.ai/learn/snps/rs1917368 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (typical): G allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.045). [GWAS Catalog] - **TT** (typical): T allele associated with increased FOLR2 protein levels (β=0.050). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90469260 ## rs1918700 (PDE1A - DNAJC10) Source: https://orviva.ai/learn/snps/rs1918700 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.006). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs1926872 (COLGALT2 - TSEN15) Source: https://orviva.ai/learn/snps/rs1926872 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Standing height (UKB data field 50) (β=0.028). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Osteoarthritis (hip) (OR=1.06). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs193084249 (RNU7-29P - ARID1A) Source: https://orviva.ai/learn/snps/rs193084249 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased HDL cholesterol levels (β=0.083). [GWAS Catalog] - **GG** (typical): G allele associated with increased Docosahexaenoic acid to total fatty acids percentage (β=0.040). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501107 ## rs193243061 (intergenic) Source: https://orviva.ai/learn/snps/rs193243061 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of aseg rh intensity Caudate (OR=0.16). [GWAS Catalog] - **AA** (typical): A allele associated with increased Accumbens iron levels (R2* MRI) (β=0.086). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551860 ## rs1933064 (CCDST) Source: https://orviva.ai/learn/snps/rs1933064 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with increased Serum 25-Hydroxyvitamin D levels (conditioned on BMI) (β=0.016). [GWAS Catalog] - **AA** (typical): A allele associated with increased Atopic dermatitis (β=0.059). [GWAS Catalog] References: PMID:35577104; GWAS Catalog; GCST90244002 ## rs1933437 (FLT3) Source: https://orviva.ai/learn/snps/rs1933437 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with increased Diastolic blood pressure (β=0.085). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs1935 (JMJD1C) Source: https://orviva.ai/learn/snps/rs1935 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (typical): G allele associated with increased Phospholipids to Total Lipids in Large LDL percentage (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Estimated degree of unsaturation (β=0.041). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302121 ## rs194608 (TENT5A - SNORA70) Source: https://orviva.ai/learn/snps/rs194608 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.043). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.013). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs1948897 (LINC00499 - NOCT) Source: https://orviva.ai/learn/snps/rs1948897 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Educational attainment (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs1948948 (UNGP1 - HNRNPA1L3) Source: https://orviva.ai/learn/snps/rs1948948 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased IDP dMRI TBSS ISOVF Sagittal stratum R (β=0.083). [GWAS Catalog] - **CC** (typical): C allele associated with increased White matter hyperintensity volume (adjusted for hypertension) (β=0.037). [GWAS Catalog] References: PMID:33293549; GWAS Catalog; GCST011950 ## rs1950500 (U6 - NFATC4) Source: https://orviva.ai/learn/snps/rs1950500 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.026). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Diastolic blood pressure (OR=0.13). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs1963689 (RPS4XP9 - RSPO3) Source: https://orviva.ai/learn/snps/rs1963689 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist-hip index (β=0.062). [GWAS Catalog] - **TT** (typical): T allele associated with increased Skull bone mineral density (β=0.055). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs1965132 (ARL6IP5) Source: https://orviva.ai/learn/snps/rs1965132 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Urate levels (UKB data field 30880) (β=0.012). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.005). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468107 ## rs1967210 (PTPRJ) Source: https://orviva.ai/learn/snps/rs1967210 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (typical): G allele associated with increased Putamen iron levels (R2* MRI) (β=0.055). [GWAS Catalog] - **TT** (typical): T allele associated with increased Cholesteryl Esters to Total Lipids in Chylomicrons and Extremely Large VLDL p... (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501333 ## rs1969684 (C1orf21) Source: https://orviva.ai/learn/snps/rs1969684 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking cessation (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Systolic blood pressure (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243988 ## rs1977658 (PRMT6) Source: https://orviva.ai/learn/snps/rs1977658 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Cholesteryl Esters to Total Lipids in Small VLDL percentage (β=0.010). [GWAS Catalog] - **TT** (increased): T allele associated with increased Adult body size (β=0.008). [GWAS Catalog] References: PMID:32376654; GWAS Catalog; GCST010988 ## rs1983716 (CASC20 - LINC01713) Source: https://orviva.ai/learn/snps/rs1983716 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist circumference adjusted for body mass index (β=0.035). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglycerides in medium VLDL (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501216 ## rs198375 (NPPA - NPPB) Source: https://orviva.ai/learn/snps/rs198375 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Hip index (β=0.021). [GWAS Catalog] - **TT** (typical): T allele associated with increased Free cholesterol to total lipids ratio in large HDL (β=0.021). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020026 ## rs1983864 (LOXL4) Source: https://orviva.ai/learn/snps/rs1983864 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.017). [GWAS Catalog] - **TT** (typical): T allele associated with increased Ischemic heart disease (PheCode 411) (β=0.034). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs1990613 (NOL10) Source: https://orviva.ai/learn/snps/rs1990613 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with marginally increased risk of Prostate cancer (OR=1.07). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.007). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs1990622 (TMEM106B - VWDE) Source: https://orviva.ai/learn/snps/rs1990622 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (high): A allele associated with substantially increased risk of Differential aging in older adults (frontal cortex) (OR=6.06). [GWAS Catalog] - **GG** (typical): G allele associated with increased High density lipoprotein cholesterol levels (β=0.012). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239652 ## rs1991431 (ZBTB38) Source: https://orviva.ai/learn/snps/rs1991431 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (slightly elevated): A allele associated with slightly increased risk of Height (OR=1.33). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.018). [GWAS Catalog] References: PMID:23563607; GWAS Catalog; GCST001956 ## rs1991556 (MAPT) Source: https://orviva.ai/learn/snps/rs1991556 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased Alcohol consumption (β=0.012). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sleep duration (β=0.016). [GWAS Catalog] References: PMID:31358974; GWAS Catalog; GCST008757 ## rs1992442 (LPL - RPL30P9) Source: https://orviva.ai/learn/snps/rs1992442 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (typical / lower): A allele associated with decreased risk of Metabolic syndrome (OR=0.16). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Fasting total fatty acids (OR=0.16). [GWAS Catalog] References: PMID:34610981; GWAS Catalog; GCST90091613 ## rs1993709 (LINC02796) Source: https://orviva.ai/learn/snps/rs1993709 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (β=0.032). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Obesity (early onset extreme) (OR=1.38). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009001 ## rs199499 (WNT3) Source: https://orviva.ai/learn/snps/rs199499 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Alcohol consumption (drinks per month) (UKB data field 1578, 4424) (β=0.023). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Osteoarthritis (with total hip replacement) (OR=1.06). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566802 ## rs199510 (WNT3) Source: https://orviva.ai/learn/snps/rs199510 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs199928 (CACNA1E) Source: https://orviva.ai/learn/snps/rs199928 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Drinks per week (β=0.009). [GWAS Catalog] - **TT** (high): T allele associated with substantially increased risk of Intelligence (OR=5.53). [GWAS Catalog] References: PMID:29942086; GWAS Catalog; GCST006250 ## rs2001127 (PIGC, DNM3) Source: https://orviva.ai/learn/snps/rs2001127 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist-hip index (β=0.037). [GWAS Catalog] - **TT** (typical): T allele associated with increased Cholesterol to Total Lipids in Large HDL percentage (β=0.010). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs2001433 (XKR6) Source: https://orviva.ai/learn/snps/rs2001433 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased Ratio of monounsaturated fatty acids to total fatty acids (β=0.036). [GWAS Catalog] - **AA** (typical): A allele associated with increased Type 2 diabetes (β=0.034). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092929 ## rs2001846 (TRIB1 - TRIB1AL) Source: https://orviva.ai/learn/snps/rs2001846 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of triglyceride (mean, inv-norm transformed) (OR=0.13). [GWAS Catalog] - **CC** (typical): C allele associated with increased Drinks per week (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs2003476 (CRTC1) Source: https://orviva.ai/learn/snps/rs2003476 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased BMI (standard GWA) (β=0.093). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Barrett's esophagus or Esophageal adenocarcinoma (OR=0.87). [GWAS Catalog] References: PMID:37106081; GWAS Catalog; GCST90267268 ## rs200383755 (GATA5) Source: https://orviva.ai/learn/snps/rs200383755 (imported from public databases, not individually reviewed; category: Drug response; effect allele C) - **GG** (typical / lower): G allele associated with decreased risk of Chronic obstructive pulmonary disease liability (machine learning-based score) (OR=0.11). [GWAS Catalog] - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.100). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428446 ## rs200564310 (RNA5SP214 - VGLL2) Source: https://orviva.ai/learn/snps/rs200564310 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.016). [GWAS Catalog] - **GG** (typical): G allele associated with increased Serum uric acid levels (β=0.013). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs2010921 (NTM) Source: https://orviva.ai/learn/snps/rs2010921 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs2011603 (LCORL - LINC02438) Source: https://orviva.ai/learn/snps/rs2011603 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.057). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Systolic blood pressure (OR=0.25). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs2013002 (ACAD10 - ALDH2) Source: https://orviva.ai/learn/snps/rs2013002 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.50). [GWAS Catalog] - **CC** (increased): C allele associated with increased Hip circumference (UKB data field 49) (β=0.015). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132903 ## rs2018519 (HPN-AS1) Source: https://orviva.ai/learn/snps/rs2018519 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.020). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglycerides (β=0.021). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012106 ## rs2019185 (CILP) Source: https://orviva.ai/learn/snps/rs2019185 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Electrocardiogram morphology (amplitude at temporal datapoints) (β=0.038). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.017). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662886 ## rs2022464 (FOXO3) Source: https://orviva.ai/learn/snps/rs2022464 (imported from public databases, not individually reviewed; category: Drug response; effect allele C) - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Intelligence (MTAG) (β=0.025). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428446 ## rs2028269 (THBS4) Source: https://orviva.ai/learn/snps/rs2028269 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.007). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs2030519 (LPP) Source: https://orviva.ai/learn/snps/rs2030519 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (slightly elevated): A allele associated with slightly increased risk of Celiac disease (OR=1.32). [GWAS Catalog] - **GG** (typical): G allele associated with increased Melanomas of skin, dx or hx (PheCode 172.1) (β=0.074). [GWAS Catalog] References: PMID:22057235; GWAS Catalog; GCST005523 ## rs2032912 (CYB5B - NFAT5) Source: https://orviva.ai/learn/snps/rs2032912 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.042). [GWAS Catalog] - **TT** (increased): T allele associated with increased Cigarettes smoked per day (MTAG) (β=0.019). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179151 ## rs2034768 (NSUN3 - ARMC10P1) Source: https://orviva.ai/learn/snps/rs2034768 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.011). [GWAS Catalog] References: PMID:38538606; GWAS Catalog; GCST90428119 ## rs203620 (SNTG1) Source: https://orviva.ai/learn/snps/rs203620 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.011). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs2038740 (TCP11) Source: https://orviva.ai/learn/snps/rs2038740 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.021). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Osteoarthritis of the hip or knee (with total joint replacement) (OR=0.94). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs2045293 (FOXP2 - MDFIC) Source: https://orviva.ai/learn/snps/rs2045293 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.013). [GWAS Catalog] - **TT** (typical): T allele associated with increased Diastolic blood pressure (β=0.012). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662909 ## rs2048651 (PEBP4, EGR3-AS1) Source: https://orviva.ai/learn/snps/rs2048651 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.006). [GWAS Catalog] - **CC** (typical): C allele associated with increased CST6 protein levels (β=0.037). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs2055975 (ENSA - GOLPH3L) Source: https://orviva.ai/learn/snps/rs2055975 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Free Cholesterol in HDL (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Morning person (OR=1.03). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501114 ## rs2059807 (INSR) Source: https://orviva.ai/learn/snps/rs2059807 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Polycystic ovary syndrome (OR=1.14). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs2060793 (CYP2R1) Source: https://orviva.ai/learn/snps/rs2060793 (curated, human-reviewed; category: Nutrition; effect allele A) - **AA** (increased): CYP2R1 variant. Reduced 25-hydroxylation of vitamin D; lower circulating 25(OH)D levels. - **GA / AG** (increased): Moderately reduced vitamin D activation. - **GG** (typical): Normal vitamin D metabolism. References: PMID:20541252; GWAS Catalog ## rs2061456 (LCORL) Source: https://orviva.ai/learn/snps/rs2061456 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.054). [GWAS Catalog] - **CC** (high): C allele associated with substantially increased risk of Coronary artery disease (MTAG) (OR=5.64). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245844 ## rs2066807 (STAT2) Source: https://orviva.ai/learn/snps/rs2066807 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.054). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Psoriasis (OR=1.40). [GWAS Catalog] References: PMID:20881960; GWAS Catalog; GCST000817 ## rs2067819 (PPARG) Source: https://orviva.ai/learn/snps/rs2067819 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Triglyceride to HDL cholesterol ratio (β=0.035). [GWAS Catalog] - **AA** (typical): A allele associated with increased Polyunsaturated fatty acids to monounsaturated fatty acids ratio (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501230 ## rs2068012 (PRKD1) Source: https://orviva.ai/learn/snps/rs2068012 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Intelligence (MTAG) (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Schizophrenia (OR=1.07). [GWAS Catalog] References: PMID:25056061; GWAS Catalog; GCST002539 ## rs2070389 (SON) Source: https://orviva.ai/learn/snps/rs2070389 (imported from public databases, not individually reviewed; category: Drug response; effect allele C) - **CC** (reduced): C allele associated with decreased risk of IFNGR2 protein levels (OR=0.17). [GWAS Catalog] - **TT** (increased): T allele associated with increased Educational attainment (MTAG) (β=0.009). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90469514 ## rs2070600 (AGER) Source: https://orviva.ai/learn/snps/rs2070600 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (slightly elevated): C allele associated with slightly increased risk of Chronic obstructive pulmonary disease (OR=1.21). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Emphysema imaging phenotypes (OR=0.14). [GWAS Catalog] References: PMID:26030696; GWAS Catalog; GCST002945 ## rs2070971 (GCK) Source: https://orviva.ai/learn/snps/rs2070971 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.023). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.010). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662893 ## rs2071303 (H2BC4, HFE) Source: https://orviva.ai/learn/snps/rs2071303 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Systolic blood pressure (β=0.014). [GWAS Catalog] - **TT** (increased): T allele associated with increased Cognitive performance (MTAG) (β=0.016). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006570 ## rs2071387 (COPB2-DT, RBP1) Source: https://orviva.ai/learn/snps/rs2071387 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Retinol-binding protein 1 (analyte X19279.42) levels (OR=0.59). [GWAS Catalog] - **AA** (increased): A allele associated with increased Educational attainment (β=0.009). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs2072113 (FADS2) Source: https://orviva.ai/learn/snps/rs2072113 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Concentration of medium HDL particles (UKB data field 23565) (β=0.056). [GWAS Catalog] - **CC** (typical): C allele associated with increased Fatty acid(22:4)_[M-H]1- levels (β=0.051). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269662 ## rs2072860 (TMPRSS6) Source: https://orviva.ai/learn/snps/rs2072860 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Phospholipids to Total Lipids in Small HDL percentage (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased Pallidum iron levels (R2* MRI) (β=0.047). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551868 ## rs2074310 (ABCC8) Source: https://orviva.ai/learn/snps/rs2074310 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Diabetes mellitus (PheCode 250) (β=0.054). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.006). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479892 ## rs2074493 (HLA-C) Source: https://orviva.ai/learn/snps/rs2074493 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **CC** (typical): C allele associated with increased Triglyceride to HDL cholesterol ratio (β=0.050). [GWAS Catalog] - **AA** (typical): A allele associated with increased Monounsaturated fatty acids (16:1, 18:1) levels (β=0.040). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302055 ## rs2074686 (AP1S1) Source: https://orviva.ai/learn/snps/rs2074686 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs2075650 (TOMM40) Source: https://orviva.ai/learn/snps/rs2075650 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (elevated): G allele associated with significantly increased risk of Alzheimer's disease (OR=2.53). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.025). [GWAS Catalog] References: PMID:20460622; GWAS Catalog; GCST000682 ## rs2077177 (HOXC4, HOXC6) Source: https://orviva.ai/learn/snps/rs2077177 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased A body shape index (β=0.028). [GWAS Catalog] - **TT** (typical): T allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.014). [GWAS Catalog] References: PMID:37069358; GWAS Catalog; GCST90244098 ## rs2081194 (FGF21 - RNU6-317P) Source: https://orviva.ai/learn/snps/rs2081194 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Drinks per week (β=0.013). [GWAS Catalog] - **GG** (typical): G allele associated with increased Phospholipid levels in VLDL (β=0.027). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243984 ## rs2084007 (JADE2) Source: https://orviva.ai/learn/snps/rs2084007 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with marginally increased risk of Multiple sclerosis (OR=1.08). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Height (standard GWA) (OR=0.11). [GWAS Catalog] References: PMID:37106081; GWAS Catalog; GCST90267284 ## rs2091329 (CYB561D1) Source: https://orviva.ai/learn/snps/rs2091329 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with slightly decreased risk of Dyslexia (OR=0.95). [GWAS Catalog] - **AA** (high): A allele associated with substantially increased risk of General cognitive ability (OR=5.60). [GWAS Catalog] References: PMID:29844566; GWAS Catalog; GCST006269 ## rs2093210 (C14orf39) Source: https://orviva.ai/learn/snps/rs2093210 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased height (mean, inv-normal transformed) (β=0.075). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Glaucoma (primary open-angle) (OR=0.84). [GWAS Catalog] References: PMID:33627673; GWAS Catalog; GCST011439 ## rs2098651 (TENM2) Source: https://orviva.ai/learn/snps/rs2098651 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking cessation (β=0.010). [GWAS Catalog] - **CC** (high): C allele associated with substantially increased risk of Depression (OR=6.34). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243988 ## rs210192 (ZBTB9 - RN7SL26P) Source: https://orviva.ai/learn/snps/rs210192 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Psoriasis (β=0.070). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs210381 (DDHD1-DT) Source: https://orviva.ai/learn/snps/rs210381 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Systolic blood pressure (OR=0.14). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Blond vs. brown/black hair color (OR=1.04). [GWAS Catalog] References: PMID:30531825; GWAS Catalog; GCST006988 ## rs2106727 (AHR) Source: https://orviva.ai/learn/snps/rs2106727 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Polyunsaturated fatty acids to total fatty acids percentage (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Free cholesterol in medium VLDL (β=0.028). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501231 ## rs2108622 (CYP4F2) Source: https://orviva.ai/learn/snps/rs2108622 (curated, human-reviewed; category: Drug response; effect allele T) - **TT** (increased): CYP4F2 V433M homozygous. Higher warfarin dose required due to reduced vitamin K metabolism. - **CT / TC** (increased): CYP4F2 V433M carrier. Slightly higher warfarin dose may be needed. - **CC** (typical): Normal CYP4F2 function. Standard warfarin dosing. References: CPIC; PMID:18250228; PharmGKB ## rs2111485 (FAP - IFIH1) Source: https://orviva.ai/learn/snps/rs2111485 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Hypothyroidism (β=0.061). [GWAS Catalog] - **AA** (typical): A allele associated with increased Interferon-induced GTP-binding protein Mx1 levels (β=0.096). [GWAS Catalog] References: PMID:41238958; GWAS Catalog; GCST90572791 ## rs2112347 (POC5 - SLC25A5P9) Source: https://orviva.ai/learn/snps/rs2112347 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (β=0.026). [GWAS Catalog] - **TT** (typical): T allele associated with increased High density lipoprotein cholesterol levels (β=0.018). [GWAS Catalog] References: PMID:33980691; GWAS Catalog; GCST90020233 ## rs2114273 (Y_RNA - FNBP1L) Source: https://orviva.ai/learn/snps/rs2114273 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] - **TT** (typical): T allele associated with increased High-density lipoprotein levels (MTAG) (β=0.025). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179147 ## rs2115780 (RFT1) Source: https://orviva.ai/learn/snps/rs2115780 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Number of puzzles correctly solved (baseline) (β=0.022). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Autism spectrum disorder or schizophrenia (OR=1.06). [GWAS Catalog] References: PMID:28540026; GWAS Catalog; GCST004521 ## rs212100 (SULT2A1) Source: https://orviva.ai/learn/snps/rs212100 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with increased Serum 25-Hydroxyvitamin D levels (conditioned on BMI) (β=0.066). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Plasma androstenediol (3alpha, 17alpha) monosulfate (2) levels in chronic kid... (OR=0.28). [GWAS Catalog] References: PMID:37277652; GWAS Catalog; GCST90264797 ## rs2126474 (HNF4G - RNU2-54P) Source: https://orviva.ai/learn/snps/rs2126474 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Childhood body mass index (β=0.022). [GWAS Catalog] - **TT** (typical): T allele associated with increased Systolic blood pressure (MTAG) (β=0.014). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301649 ## rs2126643 (COL11A1) Source: https://orviva.ai/learn/snps/rs2126643 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.027). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Osteoarthritis (hip) (OR=1.10). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs2129869 (SSPN-AS1) Source: https://orviva.ai/learn/snps/rs2129869 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Cholesterol to Total Lipids in Large VLDL percentage (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501159 ## rs2135963 (ZNF827) Source: https://orviva.ai/learn/snps/rs2135963 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.016). [GWAS Catalog] - **GG** (increased): G allele associated with increased Standing height (UKB data field 50) (β=0.007). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs2138157 (NYAP2 - MIR5702) Source: https://orviva.ai/learn/snps/rs2138157 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Triglycerides to phosphoglycerides ratio (UKB data field 23435) (β=0.046). [GWAS Catalog] - **CC** (typical): C allele associated with increased Saturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269532 ## rs2140046 (NOSTRIN, SPC25) Source: https://orviva.ai/learn/snps/rs2140046 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.019). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglycerides to Total Lipids in Very Large HDL percentage (β=0.010). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662911 ## rs214080 (NUCB2) Source: https://orviva.ai/learn/snps/rs214080 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased height (mean, inv-normal transformed) (β=0.026). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total cholesterol levels (β=0.010). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239676 ## rs214105 (NUCB2) Source: https://orviva.ai/learn/snps/rs214105 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.047). [GWAS Catalog] - **AA** (increased): A allele associated with increased Insomnia (β=0.006). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs2142331 (TRPS1) Source: https://orviva.ai/learn/snps/rs2142331 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased What is your height? (cm, inv-normal transformed) (β=0.035). [GWAS Catalog] - **TT** (typical): T allele associated with increased Ratio of triglycerides to phosphoglycerides (β=0.027). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479637 ## rs2146324 (VEGFA - LINC02537) Source: https://orviva.ai/learn/snps/rs2146324 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist-hip index (β=0.059). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglycerides (β=0.043). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs2155219 (EMSY - LINC02757) Source: https://orviva.ai/learn/snps/rs2155219 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (typical): A allele associated with marginally increased risk of Crohn's disease (OR=1.19). [GWAS Catalog] - **TT** (slightly elevated): T allele associated with slightly increased risk of Alopecia areata (OR=1.21). [GWAS Catalog] References: PMID:25608926; GWAS Catalog; GCST004866 ## rs2156552 (SMUG1P1 - ACAA2) Source: https://orviva.ai/learn/snps/rs2156552 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased HDL cholesterol (β=0.081). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total fatty acid levels (β=0.057). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018956 ## rs2156805 (UBASH3B) Source: https://orviva.ai/learn/snps/rs2156805 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Systolic blood pressure (MTAG) (β=0.010). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.006). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs2157719 (CDKN2B-AS1) Source: https://orviva.ai/learn/snps/rs2157719 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (slightly elevated): C allele associated with slightly increased risk of Glioma (OR=1.28). [GWAS Catalog] - **TT** (increased): T allele associated with increased IDP dMRI ProbtrackX ICVF cst l (β=0.061). [GWAS Catalog] References: PMID:26424050; GWAS Catalog; GCST003228 ## rs2159935 (LINC02260 - KIT) Source: https://orviva.ai/learn/snps/rs2159935 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical): A allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triglyceride to HDL cholesterol ratio (β=0.023). [GWAS Catalog] References: PMID:38200128; GWAS Catalog; GCST90295949 ## rs2167364 (DDC) Source: https://orviva.ai/learn/snps/rs2167364 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Height (β=0.015). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Acute lymphoblastic leukemia (childhood) (OR=1.32). [GWAS Catalog] References: PMID:22076464; GWAS Catalog; GCST001320 ## rs2170169 (INPP5B) Source: https://orviva.ai/learn/snps/rs2170169 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.024). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Hypothyroidism (OR=1.06). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245845 ## rs217181 (HPR - TXNL4B) Source: https://orviva.ai/learn/snps/rs217181 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Ferritin levels (FTH1.FTL.3031.66.1) (OR=0.52). [GWAS Catalog] - **CC** (typical): C allele associated with increased Low density lipoprotein cholesterol levels (β=0.053). [GWAS Catalog] References: PMID:29875488; GWAS Catalog; GCST90241157 ## rs2176598 (HSD17B12) Source: https://orviva.ai/learn/snps/rs2176598 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (β=0.018). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.035). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs2183825 (LINGO2) Source: https://orviva.ai/learn/snps/rs2183825 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (β=0.023). [GWAS Catalog] - **CC** (typical): C allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243984 ## rs2186709 (NCAM1) Source: https://orviva.ai/learn/snps/rs2186709 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.024). [GWAS Catalog] - **AA** (typical): A allele associated with increased Systolic blood pressure (β=0.014). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662908 ## rs2186710 (LINC02763 - NCAM1-AS2) Source: https://orviva.ai/learn/snps/rs2186710 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Cognitive performance (MTAG) (β=0.015). [GWAS Catalog] - **GG** (typical): G allele associated with increased Sensitivity to environmental stress and adversity (β=0.013). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006570 ## rs2187668 (HLA-DQ2.5) Source: https://orviva.ai/learn/snps/rs2187668 (curated, human-reviewed; category: Health risk; effect allele T) - **TT** (high): Strong genetic predisposition to celiac disease. HLA-DQ2.5 present in ~95% of celiac patients. - **CT / TC** (elevated): Carrier of HLA-DQ2.5 variant; increased celiac disease susceptibility. - **CC** (typical / lower): Lower genetic risk for celiac disease at this locus. References: PMID:18311140; GWAS Catalog ## rs2191349 (GTF3AP5 - AGMO) Source: https://orviva.ai/learn/snps/rs2191349 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.066). [GWAS Catalog] - **TT** (increased): T allele associated with increased Fasting blood glucose (BMI interaction) (β=0.000). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs2193749 (ARID2) Source: https://orviva.ai/learn/snps/rs2193749 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Drinks per week (β=0.008). [GWAS Catalog] - **TT** (increased): T allele associated with increased Ease of getting up in the morning (β=0.010). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs2197973 (USP44) Source: https://orviva.ai/learn/snps/rs2197973 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased height (minimum, inv-normal transformed) (β=0.028). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Type 2 diabetes (OR=1.04). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479636 ## rs2199936 (ABCG2) Source: https://orviva.ai/learn/snps/rs2199936 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Serum uric acid levels (OR=0.11). [GWAS Catalog] - **GG** (typical): G allele associated with increased Coffee consumption (β=0.015). [GWAS Catalog] References: PMID:30993211; GWAS Catalog; GCST007733 ## rs2200733 (PITX2) Source: https://orviva.ai/learn/snps/rs2200733 (curated, human-reviewed; category: Health risk; effect allele T) - **TT** (elevated): Increased risk for atrial fibrillation. PITX2 locus strongly associated with AF. - **CT / TC** (slightly elevated): Moderately increased atrial fibrillation risk. - **CC** (typical / lower): Typical risk for atrial fibrillation. References: PMID:17603472; GWAS Catalog ## rs2206271 (TFAP2D - TFAP2B) Source: https://orviva.ai/learn/snps/rs2206271 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.049). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Kidney stone disease (OR=1.09). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479521 ## rs2207139 (RPS17P5 - TNPO3P2) Source: https://orviva.ai/learn/snps/rs2207139 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.043). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Obesity (OR=1.20). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs2216144 (LINC02409) Source: https://orviva.ai/learn/snps/rs2216144 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Educational attainment (years of education) (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with increased Drinks per week (β=0.005). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006442 ## rs2217342 (ATP1A3) Source: https://orviva.ai/learn/snps/rs2217342 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (increased): A allele associated with increased Height (β=0.022). [GWAS Catalog] - **CC** (typical): C allele associated with increased Drinks per week (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs2217839 (PDE11A) Source: https://orviva.ai/learn/snps/rs2217839 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **TT** (typical): T allele associated with increased Myopia (β=0.087). [GWAS Catalog] References: PMID:35841873; GWAS Catalog; GCST90134549 ## rs2227491 (IL22) Source: https://orviva.ai/learn/snps/rs2227491 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with marginally increased risk of Atopic dermatitis (OR=1.05). [GWAS Catalog] - **TT** (typical): T allele associated with increased 25-Hydroxyvitamin D levels (β=0.011). [GWAS Catalog] References: PMID:37794016; GWAS Catalog; GCST90244787 ## rs2227551 (C10orf55, PLAU) Source: https://orviva.ai/learn/snps/rs2227551 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with marginally increased risk of Crohn's disease (OR=1.10). [GWAS Catalog] - **GG** (increased): G allele associated with increased Symbol digit substitution test performance (baseline) (β=0.020). [GWAS Catalog] References: PMID:26192919; GWAS Catalog; GCST003044 ## rs222836 (DVL2) Source: https://orviva.ai/learn/snps/rs222836 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.004). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Systolic blood pressure (standard GWA) (OR=0.29). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs222852 (PHF23) Source: https://orviva.ai/learn/snps/rs222852 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Systolic blood pressure (β=0.014). [GWAS Catalog] - **AA** (increased): A allele associated with increased Birth length (MTAG) (β=0.036). [GWAS Catalog] References: PMID:31681408; GWAS Catalog; GCST009499 ## rs2228552 (COL16A1) Source: https://orviva.ai/learn/snps/rs2228552 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Glaucoma (β=0.041). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480069 ## rs2229092 (LTA) Source: https://orviva.ai/learn/snps/rs2229092 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical / lower): A allele associated with decreased risk of Psoriasis (OR=0.24). [GWAS Catalog] - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.034). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs2229616 (MC4R) Source: https://orviva.ai/learn/snps/rs2229616 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.100). [GWAS Catalog] - **TT** (typical): T allele associated with increased High-density lipoprotein levels (MTAG) (β=0.079). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179147 ## rs2229742 (ASMER1, NRIP1) Source: https://orviva.ai/learn/snps/rs2229742 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Serum 25-Hydroxyvitamin D levels (β=0.026). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Spherical equivalent (OR=0.14). [GWAS Catalog] References: PMID:32059762; GWAS Catalog; GCST010144 ## rs2231142 (ABCG2) Source: https://orviva.ai/learn/snps/rs2231142 (curated, human-reviewed; category: Health risk; effect allele T) - **TT** (elevated): ABCG2 Q141K homozygous. Significantly elevated uric acid levels and gout risk. Especially common in East Asian populations. - **GT / TG** (slightly elevated): ABCG2 Q141K carrier. Moderately elevated uric acid and gout risk. - **GG** (typical / lower): Normal uric acid transport. Typical gout risk. References: PMID:18834626; GWAS Catalog ## rs2232423 (ZSCAN12) Source: https://orviva.ai/learn/snps/rs2232423 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Major depressive disorder (MTAG) (β=0.065). [GWAS Catalog] - **GG** (increased): G allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.019). [GWAS Catalog] References: PMID:33479212; GWAS Catalog; GCST012090 ## rs2234167 (TNFRSF14) Source: https://orviva.ai/learn/snps/rs2234167 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Hypothyroidism (β=0.065). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.011). [GWAS Catalog] References: PMID:41238958; GWAS Catalog; GCST90572791 ## rs2234962 (BAG3) Source: https://orviva.ai/learn/snps/rs2234962 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Electrocardiogram morphology (amplitude at temporal datapoints) (OR=0.10). [GWAS Catalog] - **CC** (typical): C allele associated with increased FABP3 protein levels (β=0.045). [GWAS Catalog] References: PMID:32916098; GWAS Catalog; GCST010796 ## rs2235529 (WNT4) Source: https://orviva.ai/learn/snps/rs2235529 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.021). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Endometriosis (OR=0.14). [GWAS Catalog] References: PMID:30575882; GWAS Catalog; GCST008733 ## rs2235573 (SLC16A8) Source: https://orviva.ai/learn/snps/rs2235573 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Glioblastoma (OR=1.15). [GWAS Catalog] - **AA** (slightly elevated): A allele associated with slightly increased risk of Corpus callosum genu area (OR=1.23). [GWAS Catalog] References: PMID:28346443; GWAS Catalog; GCST004349 ## rs2236252 (RRBP1) Source: https://orviva.ai/learn/snps/rs2236252 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Phospholipid levels in medium HDL (β=0.033). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.015). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245845 ## rs2237884 (KCNQ1) Source: https://orviva.ai/learn/snps/rs2237884 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with marginally increased risk of Type 2 diabetes (OR=1.04). [GWAS Catalog] - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.021). [GWAS Catalog] References: PMID:35551307; GWAS Catalog; GCST90132183 ## rs2237897 (KCNQ1) Source: https://orviva.ai/learn/snps/rs2237897 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (slightly elevated): C allele associated with slightly increased risk of Type 2 diabetes (OR=1.28). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.026). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs2238435 (ADCY9) Source: https://orviva.ai/learn/snps/rs2238435 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Hip circumference (UKB data field 49) (β=0.023). [GWAS Catalog] - **CC** (typical): C allele associated with increased Obesity (PheCode 278.1) (β=0.042). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475762 ## rs2241208 (UBE3B) Source: https://orviva.ai/learn/snps/rs2241208 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Cigarettes smoked per day (β=0.013). [GWAS Catalog] - **GG** (typical): G allele associated with increased High density lipoprotein cholesterol levels (β=0.026). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007140 ## rs2241261 (RHOBTB2-AS1, RHOBTB2) Source: https://orviva.ai/learn/snps/rs2241261 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.006). [GWAS Catalog] - **TT** (typical): T allele associated with increased Omega-3 fatty acids levels (β=0.010). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs2241358 (PTGER1 - GIPC1) Source: https://orviva.ai/learn/snps/rs2241358 (imported from public databases, not individually reviewed; category: Drug response; effect allele G) - **CC** (typical): C allele associated with increased Calculus of kidney (PheCode 594.1) (β=0.075). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cystatin C levels (β=0.017). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019504 ## rs2242416 (CRIP3) Source: https://orviva.ai/learn/snps/rs2242416 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Serum urate levels (β=0.030). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.007). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs224322 (UQCC1 - GDF5-AS1) Source: https://orviva.ai/learn/snps/rs224322 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.050). [GWAS Catalog] - **AA** (typical): A allele associated with increased Systolic blood pressure (β=0.013). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs2244648 (LINC00208 - GATA4) Source: https://orviva.ai/learn/snps/rs2244648 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Hypertension (β=0.040). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468135 ## rs2245793 (ABCA1) Source: https://orviva.ai/learn/snps/rs2245793 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Cholesterol levels (UKB data field 30690) (β=0.029). [GWAS Catalog] - **TT** (typical): T allele associated with increased Omega-6 fatty acid levels (β=0.040). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468066 ## rs2246012 (ARG1, MED23) Source: https://orviva.ai/learn/snps/rs2246012 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.016). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.053). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009004 ## rs2248551 (MED23) Source: https://orviva.ai/learn/snps/rs2248551 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased 25-hydroxyvitamin D levels (skin colour stratified) (β=0.022). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.019). [GWAS Catalog] References: PMID:37963177; GWAS Catalog; GCST90448682 ## rs2255703 (PLXND1) Source: https://orviva.ai/learn/snps/rs2255703 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (baseline) (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.026). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs2257129 (RPL19P16 - LINC01153) Source: https://orviva.ai/learn/snps/rs2257129 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.026). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.025). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662857 ## rs2263122 (FN3K) Source: https://orviva.ai/learn/snps/rs2263122 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Height (baseline) (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased Urine X-24334 levels in chronic kidney disease (β=0.091). [GWAS Catalog] References: PMID:37277652; GWAS Catalog; GCST90266675 ## rs2265099 (ADIPOR1P1 - EBLN1) Source: https://orviva.ai/learn/snps/rs2265099 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (typical): C allele associated with increased Calcium (mean, inv-norm transformed) (β=0.033). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Atrial fibrillation (OR=1.03). [GWAS Catalog] References: PMID:40050429; GWAS Catalog; GCST90559230 ## rs2266788 (APOA5) Source: https://orviva.ai/learn/snps/rs2266788 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Triglycerides (OR=0.25). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Waist Circumference - Triglycerides (WC-TG) (OR=0.41). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007142 ## rs2267161 (GAL3ST1) Source: https://orviva.ai/learn/snps/rs2267161 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Pallidum iron levels (quantitative susceptibility mapping) (β=0.064). [GWAS Catalog] - **TT** (increased): T allele associated with increased IDP dMRI TBSS ICVF Splenium of corpus callosum (β=0.090). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90004331 ## rs2267373 (MAFF, PLA2G6) Source: https://orviva.ai/learn/snps/rs2267373 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglycerides to Total Lipids in Small HDL percentage (β=0.020). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501245 ## rs2267375 (PLA2G6, MAFF) Source: https://orviva.ai/learn/snps/rs2267375 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.022). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.017). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245845 ## rs2268890 (DPP4) Source: https://orviva.ai/learn/snps/rs2268890 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.004). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs2270204 (SWI5) Source: https://orviva.ai/learn/snps/rs2270204 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (β=0.018). [GWAS Catalog] - **TT** (typical): T allele associated with increased Heart failure (β=0.024). [GWAS Catalog] References: PMID:40195560; GWAS Catalog; GCST90455657 ## rs2270445 (ARHGEF15) Source: https://orviva.ai/learn/snps/rs2270445 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Total cholesterol levels (β=0.015). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.011). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239676 ## rs2271049 (HIP1R) Source: https://orviva.ai/learn/snps/rs2271049 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Waist-hip index (β=0.034). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heart failure (β=0.027). [GWAS Catalog] References: PMID:40195560; GWAS Catalog; GCST90455657 ## rs2271494 (SIDT1) Source: https://orviva.ai/learn/snps/rs2271494 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with marginally increased risk of Prostate cancer (OR=1.09). [GWAS Catalog] - **TT** (typical): T allele associated with increased Calcium levels (β=0.021). [GWAS Catalog] References: PMID:37945903; GWAS Catalog; GCST90274714 ## rs2272046 (HMGA2) Source: https://orviva.ai/learn/snps/rs2272046 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.034). [GWAS Catalog] - **AA** (slightly elevated): A allele associated with slightly increased risk of Polycystic ovary syndrome (OR=1.43). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs2272168 (ZKSCAN5) Source: https://orviva.ai/learn/snps/rs2272168 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.015). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.022). [GWAS Catalog] References: PMID:38538606; GWAS Catalog; GCST90428119 ## rs2275641 (ELP1) Source: https://orviva.ai/learn/snps/rs2275641 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Educational attainment (MTAG) (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs2279829 (ZIC4) Source: https://orviva.ai/learn/snps/rs2279829 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.013). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs2280141 (PLEKHA1 - HTRA1-AS1) Source: https://orviva.ai/learn/snps/rs2280141 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.045). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.019). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245845 ## rs2282679 (GC) Source: https://orviva.ai/learn/snps/rs2282679 (curated, human-reviewed; category: Nutrition; effect allele C) - **CC** (increased): Significantly lower vitamin D binding protein levels. Higher supplementation needs. - **AC / CA** (increased): Moderately reduced vitamin D levels. Consider supplementation. - **AA** (typical): Normal vitamin D binding protein levels. References: PMID:20541252; GWAS Catalog ## rs2282978 (CDK6) Source: https://orviva.ai/learn/snps/rs2282978 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.039). [GWAS Catalog] - **TT** (typical): T allele associated with increased systolic blood pressure (SBP, mean, inv-normal transformed) (β=0.018). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245844 ## rs2283250 (KCNC1, SERGEF) Source: https://orviva.ai/learn/snps/rs2283250 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (increased): A allele associated with increased Educational attainment (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243984 ## rs2283792 (MAPK1) Source: https://orviva.ai/learn/snps/rs2283792 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Multiple sclerosis (OR=1.10). [GWAS Catalog] References: PMID:24076602; GWAS Catalog; GCST005531 ## rs2283847 (MN1) Source: https://orviva.ai/learn/snps/rs2283847 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.023). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.013). [GWAS Catalog] References: PMID:37069358; GWAS Catalog; GCST90244098 ## rs2284553 (IFNGR2) Source: https://orviva.ai/learn/snps/rs2284553 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (reduced): A allele associated with decreased risk of Interferon gamma receptor 2 levels (OR=0.12). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Crohn's disease (OR=1.11). [GWAS Catalog] References: PMID:26192919; GWAS Catalog; GCST003044 ## rs2285642 (GGNBP2) Source: https://orviva.ai/learn/snps/rs2285642 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.029). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglyceride levels (β=0.011). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479521 ## rs2286526 (TBX2-AS1) Source: https://orviva.ai/learn/snps/rs2286526 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.37). [GWAS Catalog] - **CC** (typical): C allele associated with increased magnesium (Mg, maximum, inv-norm transformed) (β=0.049). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479678 ## rs2288904 (SLC44A2) Source: https://orviva.ai/learn/snps/rs2288904 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Venous thromboembolism (OR=1.12). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.022). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245844 ## rs2289702 (CTSH) Source: https://orviva.ai/learn/snps/rs2289702 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Putamen iron levels (R2* MRI) (OR=0.10). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Type 1 diabetes (OR=0.84). [GWAS Catalog] References: PMID:39749473; GWAS Catalog; GCST90013791 ## rs2292239 (ERBB3) Source: https://orviva.ai/learn/snps/rs2292239 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] - **TT** (slightly elevated): T allele associated with slightly increased risk of Type 1 diabetes (OR=1.30). [GWAS Catalog] References: PMID:21829393; GWAS Catalog; GCST001191 ## rs2292643 (PGS1) Source: https://orviva.ai/learn/snps/rs2292643 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical): A allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cholesteryl esters to total lipids ratio in medium HDL (β=0.023). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092895 ## rs2293576 (SLC39A13) Source: https://orviva.ai/learn/snps/rs2293576 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Lacunar stroke (OR=1.14). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist circumference (β=0.022). [GWAS Catalog] References: PMID:25673412; GWAS Catalog; GCST004065 ## rs2294239 (ZNRF3) Source: https://orviva.ai/learn/snps/rs2294239 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.024). [GWAS Catalog] - **GG** (typical): G allele associated with increased Diastolic blood pressure (MTAG) (β=0.014). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008995 ## rs2294915 (PNPLA3) Source: https://orviva.ai/learn/snps/rs2294915 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Serum urate levels (β=0.027). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Disorders of iron metabolism (PheCode 275.1) (OR=0.19). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479935 ## rs2296172 (MACF1) Source: https://orviva.ai/learn/snps/rs2296172 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased HDL cholesterol levels (β=0.036). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.015). [GWAS Catalog] References: PMID:29273807; GWAS Catalog; GCST008129 ## rs2296624 (PIP4K2A) Source: https://orviva.ai/learn/snps/rs2296624 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (slightly elevated): C allele associated with slightly increased risk of B-cell acute lymphoblastic leukaemia (OR=1.25). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.011). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018959 ## rs2298117 (TET1) Source: https://orviva.ai/learn/snps/rs2298117 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Triglycerides (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Chronotype (OR=1.02). [GWAS Catalog] References: PMID:30696823; GWAS Catalog; GCST007576 ## rs2298615 (EHBP1L1) Source: https://orviva.ai/learn/snps/rs2298615 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased Calcium levels (β=0.002). [GWAS Catalog] - **CC** (increased): C allele associated with increased BMI at 6 weeks old (β=0.071). [GWAS Catalog] References: PMID:33887147; GWAS Catalog; GCST012398 ## rs2298632 (TCEA3) Source: https://orviva.ai/learn/snps/rs2298632 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased QT interval (β=0.042). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.015). [GWAS Catalog] References: PMID:36050321; GWAS Catalog; GCST90179153 ## rs2299383 (RELN) Source: https://orviva.ai/learn/snps/rs2299383 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.016). [GWAS Catalog] - **TT** (typical): T allele associated with increased Type 2 diabetes (β=0.041). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs2299409 (ORC5) Source: https://orviva.ai/learn/snps/rs2299409 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased Alcohol consumption (drinks per week) (MTAG) (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Schizophrenia (OR=1.04). [GWAS Catalog] References: PMID:32451486; GWAS Catalog; GCST010543 ## rs2300669 (EXOG) Source: https://orviva.ai/learn/snps/rs2300669 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **CC** (increased): C allele associated with increased Gluteofemoral adipose tissue volumes (adjusted for BMI and height) (β=0.042). [GWAS Catalog] - **AA** (typical): A allele associated with increased Alcohol consumption (drinks per week) (MTAG) (β=0.007). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007472 ## rs2303865 (CD82) Source: https://orviva.ai/learn/snps/rs2303865 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of DTI TBSS MD Uncinate fasciculus R (OR=0.18). [GWAS Catalog] - **GG** (typical): G allele associated with increased Pallidum iron levels (R2* MRI) (β=0.097). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551868 ## rs2304128 (GMIP) Source: https://orviva.ai/learn/snps/rs2304128 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **TT** (typical): T allele associated with increased Triglyceride levels in current drinkers (β=0.047). [GWAS Catalog] - **GG** (typical): G allele associated with increased Ratio of monounsaturated fatty acids to total fatty acids (β=0.045). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092929 ## rs2305398 (CAND2) Source: https://orviva.ai/learn/snps/rs2305398 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.014). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Heart failure with reduced ejection fraction (OR=0.15). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs2306283 (SLCO1B1) Source: https://orviva.ai/learn/snps/rs2306283 (imported from public databases, not individually reviewed; category: Drug response) - **AA** (typical): Normal SLCO1B1 function at this position. - **AG** (typical): SLCO1B1 *1b carrier. Generally normal function; may modify *5 effect. - **GG** (typical): SLCO1B1 *1b homozygous. May have slightly increased transporter activity. References: PharmGKB:3; Drug:repaglinide; Type:Other ## rs2306363 (SIPA1) Source: https://orviva.ai/learn/snps/rs2306363 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) (β=0.051). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist circumference adjusted for body mass index (β=0.024). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020029 ## rs2306593 (MYO19) Source: https://orviva.ai/learn/snps/rs2306593 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (β=0.019). [GWAS Catalog] - **CC** (typical): C allele associated with increased Obesity (PheCode 278.1) (β=0.033). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475762 ## rs2307111 (POC5) Source: https://orviva.ai/learn/snps/rs2307111 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (MTAG) (β=0.027). [GWAS Catalog] - **CC** (typical): C allele associated with increased Cholesterol to Total Lipids in Large HDL percentage (β=0.030). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501135 ## rs2307394 (ORC4) Source: https://orviva.ai/learn/snps/rs2307394 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Serum urate levels (β=0.019). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.006). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs2316182 (SHC3 - CKS2) Source: https://orviva.ai/learn/snps/rs2316182 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs2326451 (MIR588 - RNU6-200P) Source: https://orviva.ai/learn/snps/rs2326451 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (increased): A allele associated with increased What is your height? (cm, inv-normal transformed) (β=0.090). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Type 1 diabetes (OR=1.10). [GWAS Catalog] References: PMID:39749473; GWAS Catalog; GCST90013791 ## rs2327429 (TARID) Source: https://orviva.ai/learn/snps/rs2327429 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Coronary artery disease (β=0.072). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.004). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs2327832 (LINC03004) Source: https://orviva.ai/learn/snps/rs2327832 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Systemic lupus erythematosus (MTAG) (OR=0.15). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Celiac disease (OR=1.23). [GWAS Catalog] References: PMID:36750564; GWAS Catalog; GCST90270940 ## rs2335077 (LINC01661 - PRMT6) Source: https://orviva.ai/learn/snps/rs2335077 (imported from public databases, not individually reviewed; category: Drug response; effect allele G) - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.019). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-hip ratio (β=0.012). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428448 ## rs2335230 (ADAR) Source: https://orviva.ai/learn/snps/rs2335230 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Height (β=0.008). [GWAS Catalog] - **AA** (typical): A allele associated with increased Low-density lipoprotein levels (MTAG) (β=0.009). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179148 ## rs234866 (KCNQ1) Source: https://orviva.ai/learn/snps/rs234866 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.100). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Type 2 diabetes (adjusted for BMI) (OR=0.11). [GWAS Catalog] References: PMID:35393509; GWAS Catalog; GCST90093110 ## rs2361797 (LILRB5) Source: https://orviva.ai/learn/snps/rs2361797 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.007). [GWAS Catalog] - **TT** (typical): T allele associated with increased Creatine kinase levels in statin users (β=0.080). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs236586 (KCNJ2 - CALM2P1) Source: https://orviva.ai/learn/snps/rs236586 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (baseline) (β=0.009). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of QT interval (OR=0.64). [GWAS Catalog] References: PMID:24952745; GWAS Catalog; GCST002500 ## rs2369633 (DSTYK - TMCC2) Source: https://orviva.ai/learn/snps/rs2369633 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Hair color (β=0.074). [GWAS Catalog] - **CC** (typical): C allele associated with increased Phospholipids to Total Lipids in Very Large HDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501303 ## rs2373115 (GAB2) Source: https://orviva.ai/learn/snps/rs2373115 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.014). [GWAS Catalog] - **GG** (high): G allele associated with substantially increased risk of Alzheimer's disease (late onset) (OR=4.06). [GWAS Catalog] References: PMID:17553421; GWAS Catalog; GCST000046 ## rs2377965 (C10orf71) Source: https://orviva.ai/learn/snps/rs2377965 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Calcium levels (β=0.002). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs2378662 (RMI1 - SLC28A3) Source: https://orviva.ai/learn/snps/rs2378662 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.008). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs2381712 (RPL6P5 - METAP2P1) Source: https://orviva.ai/learn/snps/rs2381712 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.019). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Asthma onset (childhood vs adult) (OR=1.06). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs2392929 (CCDC71L - LINC02577) Source: https://orviva.ai/learn/snps/rs2392929 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with increased Systolic blood pressure (β=0.041). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Pulse pressure (BMI unadjusted) (OR=0.67). [GWAS Catalog] References: PMID:39048560; GWAS Catalog; GCST90335166 ## rs2393791 (HNF1A) Source: https://orviva.ai/learn/snps/rs2393791 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.007). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Gallstone disease (OR=1.09). [GWAS Catalog] References: PMID:34651315; GWAS Catalog; GCST90128518 ## rs2394172 (HLA-F-AS1) Source: https://orviva.ai/learn/snps/rs2394172 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.025). [GWAS Catalog] - **TT** (reduced): T allele associated with decreased risk of IFI30 protein levels (OR=0.10). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90469509 ## rs2396084 (VEGFA - LINC02537) Source: https://orviva.ai/learn/snps/rs2396084 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Triglyceride to HDL cholesterol ratio (β=0.023). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hip index (β=0.018). [GWAS Catalog] References: PMID:38200128; GWAS Catalog; GCST90295949 ## rs2409088 (MFHAS1) Source: https://orviva.ai/learn/snps/rs2409088 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Endometriosis or asthma (pleiotropy) (β=0.050). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012226 ## rs240993 (REV3L, MFSD4B) Source: https://orviva.ai/learn/snps/rs240993 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (slightly elevated): A allele associated with slightly increased risk of Psoriasis (OR=1.25). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.005). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs2412710 (CAPN3) Source: https://orviva.ai/learn/snps/rs2412710 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.087). [GWAS Catalog] - **GG** (typical): G allele associated with increased Ratio of omega-6 fatty acids to omega-3 fatty acids (β=0.089). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092934 ## rs2413338 (HMGXB4) Source: https://orviva.ai/learn/snps/rs2413338 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.022). [GWAS Catalog] - **TT** (typical): T allele associated with increased Non-HDL cholesterol levels (β=0.014). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239670 ## rs2416564 (ASTN2) Source: https://orviva.ai/learn/snps/rs2416564 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.018). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Osteoarthritis of the hip or knee (OR=0.97). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs2416759 (CDK5RAP2 - MEGF9) Source: https://orviva.ai/learn/snps/rs2416759 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Educational attainment (years of education) (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.012). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010244 ## rs2419604 (GPAM) Source: https://orviva.ai/learn/snps/rs2419604 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Free cholesterol in large VLDL (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.017). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501162 ## rs2420946 (FGFR2) Source: https://orviva.ai/learn/snps/rs2420946 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (slightly elevated): A allele associated with slightly increased risk of Breast cancer in BRCA2 mutation carriers (OR=1.27). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.013). [GWAS Catalog] References: PMID:23544012; GWAS Catalog; GCST007302 ## rs2421016 (PLEKHA1) Source: https://orviva.ai/learn/snps/rs2421016 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Type 2 diabetes (OR=1.04). [GWAS Catalog] References: PMID:35551307; GWAS Catalog; GCST90132183 ## rs2421552 (ALMS1) Source: https://orviva.ai/learn/snps/rs2421552 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] - **TT** (high): T allele associated with substantially increased risk of Intelligence (OR=5.47). [GWAS Catalog] References: PMID:29942086; GWAS Catalog; GCST006250 ## rs2425070 (NFS1) Source: https://orviva.ai/learn/snps/rs2425070 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (slightly elevated): G allele associated with slightly increased risk of Non-melanoma skin cancer (OR=1.22). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.034). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs242557 (MAPT) Source: https://orviva.ai/learn/snps/rs242557 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (elevated): G allele associated with moderately increased risk of Progressive supranuclear palsy (OR=1.91). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.017). [GWAS Catalog] References: PMID:31059154; GWAS Catalog; GCST007845 ## rs242559 (MAPT) Source: https://orviva.ai/learn/snps/rs242559 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Atrial fibrillation and flutter (PheCode 427.2) (β=0.054). [GWAS Catalog] - **AA** (high): A allele associated with substantially increased risk of General cognitive ability (OR=7.43). [GWAS Catalog] References: PMID:29844566; GWAS Catalog; GCST006269 ## rs2426439 (LINC01524) Source: https://orviva.ai/learn/snps/rs2426439 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.036). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-hip index (β=0.020). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs2434885 (ZNF19) Source: https://orviva.ai/learn/snps/rs2434885 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Total cholesterol levels (β=0.043). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Height (standard GWA) (OR=0.13). [GWAS Catalog] References: PMID:37106081; GWAS Catalog; GCST90267284 ## rs2436396 (IGIP - CYSTM1) Source: https://orviva.ai/learn/snps/rs2436396 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased FABP9 protein levels (β=0.046). [GWAS Catalog] - **AA** (increased): A allele associated with increased Male-pattern baldness (β=0.021). [GWAS Catalog] References: PMID:30573740; GWAS Catalog; GCST007020 ## rs2444239 (TRIM29 - OAF) Source: https://orviva.ai/learn/snps/rs2444239 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **AA** (typical): A allele associated with increased Serum urate levels (β=0.020). [GWAS Catalog] - **TT** (typical): T allele associated with increased IFNLR1 protein levels (β=0.039). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90469518 ## rs2452170 (FUT2 - MAMSTR) Source: https://orviva.ai/learn/snps/rs2452170 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical): A allele associated with increased Drinks per week (β=0.013). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total cholesterol levels (β=0.042). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007143 ## rs2454206 (TET2-AS1, TET2) Source: https://orviva.ai/learn/snps/rs2454206 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Chronic obstructive pulmonary disease (OR=1.07). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.027). [GWAS Catalog] References: PMID:25429064; GWAS Catalog; GCST002702 ## rs2456973 (IKZF4) Source: https://orviva.ai/learn/snps/rs2456973 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Educational attainment (years of education) (β=0.019). [GWAS Catalog] - **CC** (slightly elevated): C allele associated with slightly increased risk of Vitiligo (OR=1.29). [GWAS Catalog] References: PMID:22561518; GWAS Catalog; GCST001509 ## rs2460000 (FAAP20 - SKI) Source: https://orviva.ai/learn/snps/rs2460000 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.010). [GWAS Catalog] - **GG** (typical): G allele associated with increased Urate levels (UKB data field 30880) (β=0.012). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468107 ## rs246181 (Y_RNA - MIR193BHG) Source: https://orviva.ai/learn/snps/rs246181 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Hand grip strength (baseline) (β=0.009). [GWAS Catalog] - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.022). [GWAS Catalog] References: PMID:40645996; GWAS Catalog; GCST90624412 ## rs2466826 (SBK1 - NPIPB6) Source: https://orviva.ai/learn/snps/rs2466826 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.026). [GWAS Catalog] - **AA** (typical): A allele associated with increased Cholesterol in Medium HDL (β=0.010). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs2467520 (BLK) Source: https://orviva.ai/learn/snps/rs2467520 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist circumference adjusted for body mass index (β=0.022). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.033). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs2472297 (CYP1A1 - CYP1A2) Source: https://orviva.ai/learn/snps/rs2472297 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Coffee consumption (cups per day) (β=0.069). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of 1-methylurate levels (OR=0.14). [GWAS Catalog] References: PMID:36357675; GWAS Catalog; GCST90244919 ## rs247616 (HERPUD1 - CETP) Source: https://orviva.ai/learn/snps/rs247616 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Total lipid levels in medium HDL (OR=0.16). [GWAS Catalog] - **TT** (typical): T allele associated with increased Ratio of omega-6 fatty acids to total fatty acids (β=0.050). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90301962 ## rs247617 (HERPUD1 - CETP) Source: https://orviva.ai/learn/snps/rs247617 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **CC** (typical / lower): C allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) (OR=0.24). [GWAS Catalog] - **AA** (typical): A allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.030). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501219 ## rs247975 (SPATA16 - NLGN1) Source: https://orviva.ai/learn/snps/rs247975 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (β=0.018). [GWAS Catalog] - **CC** (typical): C allele associated with increased Cholesterol to Total Lipids in Large HDL percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501135 ## rs2494195 (LYPLAL1-AS1) Source: https://orviva.ai/learn/snps/rs2494195 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.079). [GWAS Catalog] - **TT** (increased): T allele associated with increased A body shape index (β=0.028). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020024 ## rs2516739 (NTHL1) Source: https://orviva.ai/learn/snps/rs2516739 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglycerides in large HDL (β=0.010). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs2517474 (HCG22 - RNU6-1133P) Source: https://orviva.ai/learn/snps/rs2517474 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total lipid levels in medium LDL (β=0.025). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092910 ## rs2518134 (AHSG, HRG-AS1) Source: https://orviva.ai/learn/snps/rs2518134 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased Calcium levels (UKB data field 30680) (β=0.033). [GWAS Catalog] - **CC** (typical): C allele associated with increased Free cholesterol to total lipids ratio in IDL (β=0.038). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468065 ## rs2521501 (FES) Source: https://orviva.ai/learn/snps/rs2521501 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **TT** (typical): T allele associated with increased Diastolic blood pressure (UKB data field 4079) (β=0.023). [GWAS Catalog] - **AA** (typical): A allele associated with increased Caffeine consumption from coffee (β=0.015). [GWAS Catalog] References: PMID:33287642; GWAS Catalog; GCST011125 ## rs2523589 (HLA-B) Source: https://orviva.ai/learn/snps/rs2523589 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased A body shape index (β=0.023). [GWAS Catalog] - **GG** (typical): G allele associated with increased Free cholesterol to total lipids ratio in very small VLDL (β=0.027). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90093033 ## rs2523659 (HCP5) Source: https://orviva.ai/learn/snps/rs2523659 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglyceride levels in very large HDL (β=0.029). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.017). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90093014 ## rs2524299 (FADS2) Source: https://orviva.ai/learn/snps/rs2524299 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (typical): T allele associated with increased Fatty acid(20:4)_[M-H]1- levels (β=0.062). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triacylglycerol(56:6)_[M+NH4]1+ levels (β=0.084). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060991 ## rs2526384 (SEMA3F-AS1) Source: https://orviva.ai/learn/snps/rs2526384 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.013). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.013). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs2528787 (TEX29 - LINC02337) Source: https://orviva.ai/learn/snps/rs2528787 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.015). [GWAS Catalog] - **TT** (typical): T allele associated with increased Cholesteryl Esters to Total Lipids in Large HDL percentage (β=0.010). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs2532972 (DLEU1) Source: https://orviva.ai/learn/snps/rs2532972 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.027). [GWAS Catalog] - **TT** (typical): T allele associated with increased High-density lipoprotein levels (β=0.013). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs254027 (NIHCOLE - RNU6-334P) Source: https://orviva.ai/learn/snps/rs254027 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (typical): A allele associated with increased High density lipoprotein cholesterol levels (β=0.011). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.012). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs254431 (SPRY4-AS1) Source: https://orviva.ai/learn/snps/rs254431 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.019). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.026). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs2544614 (HMHB1 - RN7SL87P) Source: https://orviva.ai/learn/snps/rs2544614 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.005). [GWAS Catalog] - **AA** (typical): A allele associated with increased QRS duration (β=0.018). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs255292 (BNIP1) Source: https://orviva.ai/learn/snps/rs255292 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with marginally increased risk of PR interval (OR=1.10). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.018). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245846 ## rs2561477 (MACIR) Source: https://orviva.ai/learn/snps/rs2561477 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (β=0.010). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Rheumatoid arthritis (OR=1.11). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs2561566 (LTBP4 - NUMBL) Source: https://orviva.ai/learn/snps/rs2561566 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased HDL cholesterol levels (UKB data field 30760) (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Cigarettes smoked per day (MTAG) (β=0.026). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179151 ## rs2568958 (LINC02796) Source: https://orviva.ai/learn/snps/rs2568958 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Body mass index (β=0.027). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Depression (OR=1.03). [GWAS Catalog] References: PMID:30718901; GWAS Catalog; GCST007342 ## rs256903 (C5orf67) Source: https://orviva.ai/learn/snps/rs256903 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Type 2 diabetes (β=0.074). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist circumference adjusted for body mass index (β=0.036). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs2579989 (RPS15AP20 - PKHD1) Source: https://orviva.ai/learn/snps/rs2579989 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (β=0.019). [GWAS Catalog] - **TT** (typical): T allele associated with increased Serum urate levels (β=0.022). [GWAS Catalog] References: PMID:39406924; GWAS Catalog; GCST90455669 ## rs258341 (DPEP1) Source: https://orviva.ai/learn/snps/rs258341 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Plasma cysteinylglycine levels in chronic kidney disease (OR=0.21). [GWAS Catalog] - **TT** (typical): T allele associated with increased Calcium (mean, inv-norm transformed) (β=0.028). [GWAS Catalog] References: PMID:37277652; GWAS Catalog; GCST90264984 ## rs2586886 (KCNK3) Source: https://orviva.ai/learn/snps/rs2586886 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Mean arterial pressure (BMI adjusted) (OR=0.75). [GWAS Catalog] - **TT** (typical): T allele associated with increased Systolic blood pressure (β=0.041). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018752 ## rs2590996 (RNA5SP30 - LINC02338) Source: https://orviva.ai/learn/snps/rs2590996 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **AA** (increased): A allele associated with increased Noncognitive aspects of educational attainment (β=0.065). [GWAS Catalog] - **TT** (typical): T allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs2605098 (LYPLAL1-AS1) Source: https://orviva.ai/learn/snps/rs2605098 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.058). [GWAS Catalog] - **GG** (typical): G allele associated with increased Monounsaturated fatty acid levels (β=0.010). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs2606736 (ATG7) Source: https://orviva.ai/learn/snps/rs2606736 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.009). [GWAS Catalog] - **TT** (typical): T allele associated with increased Systolic blood pressure (β=0.021). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs261291 (ALDH1A2) Source: https://orviva.ai/learn/snps/rs261291 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Cholesterol esters in large HDL (OR=0.15). [GWAS Catalog] - **CC** (typical): C allele associated with increased Omega-3 fatty acids to total fatty acids percentage (UKB data field 23451) (β=0.080). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269548 ## rs261334 (ALDH1A2, LIPC) Source: https://orviva.ai/learn/snps/rs261334 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **CC** (typical / lower): C allele associated with decreased risk of Triglycerides to total lipids ratio in chylomicrons and extremely large VLDL (OR=0.16). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Saturated fatty acid levels (OR=0.11). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092980 ## rs261342 (LIPC-AS1, LIPC, ALDH1A2) Source: https://orviva.ai/learn/snps/rs261342 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **CC** (typical / lower): C allele associated with decreased risk of Phospholipids to Total Lipids in Medium VLDL percentage (OR=0.12). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Total fatty acid levels (OR=0.11). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092987 ## rs2613499 (LINC02796) Source: https://orviva.ai/learn/snps/rs2613499 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Adult body size (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.036). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs2613503 (LINC02796) Source: https://orviva.ai/learn/snps/rs2613503 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.039). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Insomnia symptoms (never/rarely vs. sometimes/usually) (OR=1.03). [GWAS Catalog] References: PMID:30804566; GWAS Catalog; GCST007387 ## rs2618039 (KCND3) Source: https://orviva.ai/learn/snps/rs2618039 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (β=0.011). [GWAS Catalog] - **TT** (typical): T allele associated with increased Medication use (opioids) (β=0.061). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs2622237 (DPP6) Source: https://orviva.ai/learn/snps/rs2622237 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Alcohol consumption (drinks per week) (β=0.015). [GWAS Catalog] - **GG** (increased): G allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.007). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs2624839 (SEMA3F) Source: https://orviva.ai/learn/snps/rs2624839 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.030). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Dyslexia (OR=0.96). [GWAS Catalog] References: PMID:36266505; GWAS Catalog; GCST90244674 ## rs2631360 (SLC22A5) Source: https://orviva.ai/learn/snps/rs2631360 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Hand grip strength (baseline) (β=0.012). [GWAS Catalog] - **AA** (typical): A allele associated with increased LGALS8 protein levels (β=0.039). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90469764 ## rs2638281 (FUT2 - MAMSTR) Source: https://orviva.ai/learn/snps/rs2638281 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased CBLIF protein levels (β=0.044). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Osteoarthritis (hip) (OR=1.04). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468552 ## rs2642438 (MTARC1) Source: https://orviva.ai/learn/snps/rs2642438 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Total cholesterol levels (β=0.040). [GWAS Catalog] - **GG** (typical): G allele associated with increased Saturated fatty acids to total fatty acids percentage (β=0.040). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501271 ## rs2643826 (RNU1-96P - Y_RNA) Source: https://orviva.ai/learn/snps/rs2643826 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.42). [GWAS Catalog] - **CC** (increased): C allele associated with increased Aging (β=0.006). [GWAS Catalog] References: PMID:37550455; GWAS Catalog; GCST90321079 ## rs2645430 (FDFT1) Source: https://orviva.ai/learn/snps/rs2645430 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Free cholesterol in very large HDL (β=0.030). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist circumference adjusted for body mass index (β=0.022). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501298 ## rs2657879 (SPRYD4, GLS2) Source: https://orviva.ai/learn/snps/rs2657879 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Urate levels (β=0.021). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.011). [GWAS Catalog] References: PMID:33356394; GWAS Catalog; GCST011119 ## rs2664521 (PREX1) Source: https://orviva.ai/learn/snps/rs2664521 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Standing height (UKB data field 50) (β=0.023). [GWAS Catalog] - **TT** (typical): T allele associated with increased Diastolic blood pressure (MTAG) (β=0.027). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs267733 (ANXA9) Source: https://orviva.ai/learn/snps/rs267733 (imported from public databases, not individually reviewed; category: Drug response; effect allele G) - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cystatin C levels (β=0.028). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019504 ## rs267738 (CERS2) Source: https://orviva.ai/learn/snps/rs267738 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **GG** (typical): G allele associated with increased Phospholipids to Total Lipids in Large HDL percentage (β=0.030). [GWAS Catalog] - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.005). [GWAS Catalog] References: PMID:34272381; GWAS Catalog; GCST90103635 ## rs2678204 (IPO9) Source: https://orviva.ai/learn/snps/rs2678204 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **TT** (increased): T allele associated with increased Body mass index (β=0.024). [GWAS Catalog] - **GG** (typical): G allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501219 ## rs2679053 (MIR670HG) Source: https://orviva.ai/learn/snps/rs2679053 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with increased Linoleic acid to total fatty acids percentage (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.010). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662893 ## rs268 (LPL) Source: https://orviva.ai/learn/snps/rs268 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of High density lipoprotein cholesterol levels (OR=0.30). [GWAS Catalog] - **AA** (increased): A allele associated with increased Aging (β=0.024). [GWAS Catalog] References: PMID:37550455; GWAS Catalog; GCST90321079 ## rs268134 (SPRED2) Source: https://orviva.ai/learn/snps/rs268134 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (β=0.009). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Systemic lupus erythematosus (OR=1.21). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs2693560 (RNA5SP214 - VGLL2) Source: https://orviva.ai/learn/snps/rs2693560 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased height (mean, inv-normal transformed) (β=0.044). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Diastolic blood pressure (OR=0.14). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479635 ## rs2696422 (MAPK8IP1P1 - ARL17B) Source: https://orviva.ai/learn/snps/rs2696422 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Hypothyroidism NOS (PheCode 244.4) (β=0.098). [GWAS Catalog] - **CC** (increased): C allele associated with increased IDP SWI T2star left putamen (β=0.096). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479869 ## rs2699805 (SNX10) Source: https://orviva.ai/learn/snps/rs2699805 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.037). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.018). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475352 ## rs2699812 (SNX10) Source: https://orviva.ai/learn/snps/rs2699812 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Waist-hip index (β=0.032). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.15). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310294 ## rs2721961 (TRPS1) Source: https://orviva.ai/learn/snps/rs2721961 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (typical): G allele associated with increased Non-HDL cholesterol levels (β=0.030). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total fatty acid levels (β=0.028). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092987 ## rs2725370 (TEX15 - PURG) Source: https://orviva.ai/learn/snps/rs2725370 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Educational attainment (MTAG) (β=0.015). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.032). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs2725371 (PURG) Source: https://orviva.ai/learn/snps/rs2725371 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.037). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs2726492 (TET2-AS1, TET2) Source: https://orviva.ai/learn/snps/rs2726492 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Breast cancer (β=0.048). [GWAS Catalog] - **TT** (increased): T allele associated with increased Insomnia (β=0.006). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131901 ## rs2726513 (TET2-AS1) Source: https://orviva.ai/learn/snps/rs2726513 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **TT** (increased): T allele associated with increased Cognitive performance (MTAG) (β=0.024). [GWAS Catalog] - **GG** (typical): G allele associated with increased Caffeine consumption from coffee (β=0.015). [GWAS Catalog] References: PMID:33287642; GWAS Catalog; GCST011125 ## rs2726518 (TET2-AS1, TET2) Source: https://orviva.ai/learn/snps/rs2726518 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Educational attainment (years of education) (β=0.014). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Multiple sclerosis (OR=1.07). [GWAS Catalog] References: PMID:24076602; GWAS Catalog; GCST005531 ## rs2727265 (FADS2) Source: https://orviva.ai/learn/snps/rs2727265 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (typical): G allele associated with increased Triacylglycerol(56:6)_[M+NH4]1+ levels (β=0.071). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Fatty acid(22:4)_[M-H]1- levels (OR=0.15). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060585 ## rs2727270 (FADS2) Source: https://orviva.ai/learn/snps/rs2727270 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) (OR=0.69). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Triacylglycerol(56:6)_[M+NH4]1+ levels (OR=0.10). [GWAS Catalog] References: PMID:24823311; GWAS Catalog; GCST002446 ## rs2727271 (FADS2) Source: https://orviva.ai/learn/snps/rs2727271 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Cholesterol to Total Lipids in Very Small VLDL percentage (OR=0.11). [GWAS Catalog] - **GG** (typical): G allele associated with increased Fatty acid(22:4)_[M-H]1- levels (β=0.042). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90500700 ## rs273507 (MAST3) Source: https://orviva.ai/learn/snps/rs273507 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist-hip index (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglycerides to total lipids ratio in chylomicrons and extremely large VLDL (β=0.028). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs2736099 (TERT) Source: https://orviva.ai/learn/snps/rs2736099 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Basal cell carcinoma (β=0.090). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Intrinsic epigenetic age acceleration (OR=0.63). [GWAS Catalog] References: PMID:29374233; GWAS Catalog; GCST005287 ## rs2736100 (TERT) Source: https://orviva.ai/learn/snps/rs2736100 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (slightly elevated): G allele associated with slightly increased risk of EGFR mutation-positive lung adenocarcinoma (OR=1.42). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Intrinsic epigenetic age acceleration (OR=0.20). [GWAS Catalog] References: PMID:27501781; GWAS Catalog; GCST003605 ## rs2737215 (TRPS1) Source: https://orviva.ai/learn/snps/rs2737215 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Average diameter for VLDL particles (β=0.020). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.024). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245845 ## rs2737218 (TRPS1) Source: https://orviva.ai/learn/snps/rs2737218 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.016). [GWAS Catalog] - **TT** (typical): T allele associated with increased Phospholipids in small VLDL (β=0.029). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302112 ## rs2737252 (TRPS1) Source: https://orviva.ai/learn/snps/rs2737252 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.035). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.020). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs2737265 (TRPS1) Source: https://orviva.ai/learn/snps/rs2737265 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased LDL cholesterol levels (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased Polyunsaturated fatty acid levels (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501229 ## rs2740488 (ABCA1) Source: https://orviva.ai/learn/snps/rs2740488 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (typical): A allele associated with increased Total cholesterol levels (β=0.066). [GWAS Catalog] - **CC** (typical): C allele associated with increased Polyunsaturated fatty acid levels (β=0.040). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501229 ## rs2741856 (WHSC1L2P - SOST) Source: https://orviva.ai/learn/snps/rs2741856 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Height (β=0.025). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.059). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs2744475 (TFAP2D - TFAP2B) Source: https://orviva.ai/learn/snps/rs2744475 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.045). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (PheCode 250.2) (β=0.036). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662887 ## rs274555 (SLC22A5) Source: https://orviva.ai/learn/snps/rs274555 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.035). [GWAS Catalog] - **TT** (typical): T allele associated with increased SAMD9L protein levels (β=0.046). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90470524 ## rs27524 (CAST, ERAP1) Source: https://orviva.ai/learn/snps/rs27524 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.013). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Psoriasis (OR=1.13). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs2762943 (CYP24A1 - PFDN4) Source: https://orviva.ai/learn/snps/rs2762943 (imported from public databases, not individually reviewed; category: Drug response; effect allele G) - **TT** (typical): T allele associated with increased Serum 25-Hydroxyvitamin D levels (conditioned on BMI) (β=0.046). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cystatin C levels (β=0.033). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019504 ## rs2763981 (SLC44A4) Source: https://orviva.ai/learn/snps/rs2763981 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (typical): A allele associated with increased Cholesteryl Esters to Total Lipids in IDL percentage (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.035). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs2764209 (ATP6V1FP1 - RPS10P13) Source: https://orviva.ai/learn/snps/rs2764209 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.032). [GWAS Catalog] - **TT** (typical): T allele associated with increased HDL cholesterol (β=0.044). [GWAS Catalog] References: PMID:25961943; GWAS Catalog; GCST002899 ## rs2778031 (SPATA31C2 - RPSAP49) Source: https://orviva.ai/learn/snps/rs2778031 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (slightly elevated): A allele associated with slightly increased risk of Psoriasis (OR=1.21). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.031). [GWAS Catalog] References: PMID:20881960; GWAS Catalog; GCST000817 ## rs2781668 (ARG1, MED23) Source: https://orviva.ai/learn/snps/rs2781668 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (MTAG) (β=0.017). [GWAS Catalog] - **CC** (typical): C allele associated with increased HDL cholesterol levels (β=0.017). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs2785990 (LYPLAL1-AS1) Source: https://orviva.ai/learn/snps/rs2785990 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.018). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.012). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs2792751 (GPAM) Source: https://orviva.ai/learn/snps/rs2792751 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased HDL cholesterol levels (β=0.040). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.013). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs2796793 (LINC02630 - MTND5P17) Source: https://orviva.ai/learn/snps/rs2796793 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.014). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007474 ## rs2797963 (KRT18P9 - CYCSP55) Source: https://orviva.ai/learn/snps/rs2797963 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.079). [GWAS Catalog] - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.062). [GWAS Catalog] References: PMID:40645996; GWAS Catalog; GCST90624411 ## rs2803619 (GPAM) Source: https://orviva.ai/learn/snps/rs2803619 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **CC** (typical): C allele associated with increased Phospholipids to Total Lipids in IDL percentage (β=0.040). [GWAS Catalog] - **GG** (typical): G allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (UKB data field 2... (β=0.032). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269551 ## rs2814778 (DARC/ACKR1) Source: https://orviva.ai/learn/snps/rs2814778 (curated, human-reviewed; category: Ancestry; effect allele C) - **CC** (typical / lower): Duffy-null phenotype. Provides resistance to P. vivax malaria. Nearly fixed in sub-Saharan African populations. - **CT / TC** (typical / lower): Heterozygous Duffy antigen. Partial malaria resistance. - **TT** (typical / lower): Duffy-positive. Common in European and Asian populations. References: PMID:11479229; 1000 Genomes ## rs2815749 (LINC02796) Source: https://orviva.ai/learn/snps/rs2815749 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.042). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs2820436 (LYPLAL1-AS1) Source: https://orviva.ai/learn/snps/rs2820436 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for body mass index (β=0.057). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Osteoarthritis (hospital diagnosed) (OR=1.07). [GWAS Catalog] References: PMID:28448500; GWAS Catalog; GCST004576 ## rs2820441 (LYPLAL1-AS1 - ZC3H11B) Source: https://orviva.ai/learn/snps/rs2820441 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Type 2 diabetes (PheCode 250.2) (β=0.037). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.009). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475667 ## rs2820443 (LYPLAL1-AS1 - ZC3H11B) Source: https://orviva.ai/learn/snps/rs2820443 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.060). [GWAS Catalog] - **TT** (typical): T allele associated with increased triglyceride (maximum, inv-norm transformed) (β=0.033). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs2821231 (OPTC - ATP2B4) Source: https://orviva.ai/learn/snps/rs2821231 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglycerides (β=0.015). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.009). [GWAS Catalog] References: PMID:30275531; GWAS Catalog; GCST006613 ## rs2823141 (LINC02920 - CYCSP42) Source: https://orviva.ai/learn/snps/rs2823141 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.005). [GWAS Catalog] - **AA** (typical): A allele associated with increased Myopia (age of diagnosis) (β=0.046). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs283468 (GIGYF2) Source: https://orviva.ai/learn/snps/rs283468 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.015). [GWAS Catalog] - **TT** (typical): T allele associated with increased Major depressive disorder (broad) (β=0.017). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs28364331 (ADH1A) Source: https://orviva.ai/learn/snps/rs28364331 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical / lower): G allele associated with slightly decreased risk of Urinary metabolite levels in chronic kidney disease (OR=0.81). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum 25-Hydroxyvitamin D levels (conditioned on BMI) (β=0.068). [GWAS Catalog] References: PMID:32242144; GWAS Catalog; GCST90000616 ## rs28371706 (CYP2D6) Source: https://orviva.ai/learn/snps/rs28371706 (curated, human-reviewed; category: Drug response; effect allele A) - **AA** (reduced): CYP2D6*17 homozygous (T107I). Decreased CYP2D6 function; common in African populations. - **GA / AG** (reduced): CYP2D6*17 carrier. Decreased function allele. - **GG** (typical): No CYP2D6*17 variant detected. References: CPIC; PharmVar ## rs28371725 (CYP2D6) Source: https://orviva.ai/learn/snps/rs28371725 (curated, human-reviewed; category: Drug response; effect allele T) - **TT** (reduced): CYP2D6*41 homozygous (2988G>A splicing defect). Decreased CYP2D6 function; affects codeine, tramadol, tamoxifen. - **GT / TG** (reduced): CYP2D6*41 carrier. Decreased function allele. - **GG** (typical): No CYP2D6*41 variant detected. References: CPIC; PharmVar; PMID:16416399 ## rs28380327 (ARHGAP15) Source: https://orviva.ai/learn/snps/rs28380327 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (typical): A allele associated with marginally increased risk of Chronotype (OR=1.04). [GWAS Catalog] - **TT** (typical): T allele associated with increased Cholesterol in Medium HDL (β=0.010). [GWAS Catalog] References: PMID:30696823; GWAS Catalog; GCST007576 ## rs283814 (NECTIN2, LNCOB1) Source: https://orviva.ai/learn/snps/rs283814 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.060). [GWAS Catalog] - **AA** (typical): A allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (UKB data field 2... (β=0.060). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019523 ## rs283815 (NECTIN2, LNCOB1) Source: https://orviva.ai/learn/snps/rs283815 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Triglycerides x depression interaction (2df test) (β=0.005). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Cerebral amyloid deposition (PET imaging) (OR=0.15). [GWAS Catalog] References: PMID:40537477; GWAS Catalog; GCST90570691 ## rs28394165 (SHROOM3) Source: https://orviva.ai/learn/snps/rs28394165 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.081). [GWAS Catalog] - **TT** (typical): T allele associated with increased magnesium (Mg, mean, inv-norm transformed) (β=0.060). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479679 ## rs28397663 (FLJ40194) Source: https://orviva.ai/learn/snps/rs28397663 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] - **TT** (typical): T allele associated with increased Docosahexaenoic acid to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501107 ## rs28399499 (CYP2B6) Source: https://orviva.ai/learn/snps/rs28399499 (imported from public databases, not individually reviewed; category: Drug response) - **TT** (typical): Normal CYP2B6 function at *18 position. - **TC** (increased): CYP2B6 *18 carrier. No enzyme function from this allele. More common in African populations. - **CC** (increased): CYP2B6 *18 homozygous. No enzyme function. Significantly elevated efavirenz levels. References: PharmGKB:2A; Drug:nevirapine; Type:Toxicity ## rs28419182 (RAB24) Source: https://orviva.ai/learn/snps/rs28419182 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.021). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum uric acid levels (β=0.018). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs28427480 (PTCH1) Source: https://orviva.ai/learn/snps/rs28427480 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.053). [GWAS Catalog] - **AA** (typical): A allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.024). [GWAS Catalog] References: PMID:37069358; GWAS Catalog; GCST90244098 ## rs2844510 (LINC01149) Source: https://orviva.ai/learn/snps/rs2844510 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (elevated): A allele associated with significantly increased risk of Extraintestinal manifestations in inflammatory bowel disease (ankylosing spon... (OR=2.11). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.022). [GWAS Catalog] References: PMID:38538606; GWAS Catalog; GCST90428119 ## rs2844575 (HLA-B - RNU6-283P) Source: https://orviva.ai/learn/snps/rs2844575 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.021). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.26). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132903 ## rs2844795 (TRIM31, TRIM31-AS1) Source: https://orviva.ai/learn/snps/rs2844795 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.017). [GWAS Catalog] - **CC** (typical): C allele associated with increased Omega-6 fatty acid levels (β=0.029). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092933 ## rs28451064 (MRPS6, KCNE2, LINC00310) Source: https://orviva.ai/learn/snps/rs28451064 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with marginally increased risk of Coronary artery disease (OR=1.11). [GWAS Catalog] - **GG** (increased): G allele associated with increased Visceral adipose tissue volumes (adjusted for BMI and height) (β=0.069). [GWAS Catalog] References: PMID:36474045; GWAS Catalog; GCST90132314 ## rs2845573 (FADS2) Source: https://orviva.ai/learn/snps/rs2845573 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (typical): T allele associated with increased Fatty acid(22:4)_[M-H]1- levels (β=0.042). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triacylglycerol(56:6)_[M+NH4]1+ levels (β=0.073). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060991 ## rs2845574 (FADS2) Source: https://orviva.ai/learn/snps/rs2845574 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (typical): A allele associated with increased Triacylglycerol(56:6)_[M+NH4]1+ levels (β=0.043). [GWAS Catalog] - **CC** (typical): C allele associated with increased Fatty acid(22:4)_[M-H]1- levels (β=0.040). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060585 ## rs28498205 (SBNO1-AS1 - KMT5A) Source: https://orviva.ai/learn/snps/rs28498205 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Total cholesterol levels (β=0.046). [GWAS Catalog] - **TT** (increased): T allele associated with increased Insomnia (β=0.009). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662859 ## rs28510484 (KLF13) Source: https://orviva.ai/learn/snps/rs28510484 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Psoriasis (OR=0.11). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.008). [GWAS Catalog] References: PMID:39885523; GWAS Catalog; GCST90565134 ## rs2851682 (FADS2) Source: https://orviva.ai/learn/snps/rs2851682 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Triacylglycerol(56:6)_[M+NH4]1+ levels (β=0.048). [GWAS Catalog] - **CC** (typical): C allele associated with increased Fatty acid(22:4)_[M-H]1- levels (β=0.072). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060585 ## rs28519617 (MSL2) Source: https://orviva.ai/learn/snps/rs28519617 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (baseline) (β=0.021). [GWAS Catalog] - **GG** (typical): G allele associated with increased Calcium levels (β=0.003). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs28529403 (MAPK3) Source: https://orviva.ai/learn/snps/rs28529403 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Overweight, obesity and other hyperalimentation (PheCode 278) (β=0.032). [GWAS Catalog] - **CC** (typical): C allele associated with increased Docosahexaenoic acid to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479955 ## rs2853986 (RNU6-283P - FGFR3P1) Source: https://orviva.ai/learn/snps/rs2853986 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.040). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglycerides in large HDL (β=0.044). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302005 ## rs2854746 (IGFBP3) Source: https://orviva.ai/learn/snps/rs2854746 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Serum levels of protein IGFALS (OR=0.53). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.008). [GWAS Catalog] References: PMID:35078996; GWAS Catalog; GCST90089525 ## rs2857595 (NCR3 - UQCRHP1) Source: https://orviva.ai/learn/snps/rs2857595 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (elevated): T allele associated with significantly increased risk of Type 1 diabetes and autoimmune thyroid diseases (OR=2.38). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-hip index (β=0.025). [GWAS Catalog] References: PMID:25936594; GWAS Catalog; GCST002876 ## rs2857597 (AIF1 - PRRC2A) Source: https://orviva.ai/learn/snps/rs2857597 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (typical / lower): A allele associated with decreased risk of Psoriasis (OR=0.21). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of BMI (standard GWA) (OR=0.11). [GWAS Catalog] References: PMID:37106081; GWAS Catalog; GCST90267268 ## rs28578070 (GPSM1) Source: https://orviva.ai/learn/snps/rs28578070 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.093). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (baseline) (β=0.009). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs286 (LPL) Source: https://orviva.ai/learn/snps/rs286 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **AA** (typical / lower): A allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) (OR=0.29). [GWAS Catalog] - **TT** (typical): T allele associated with increased Linoleic acid to total fatty acids percentage (β=0.092). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90498309 ## rs28619506 (SENP6 - MYO6) Source: https://orviva.ai/learn/snps/rs28619506 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.018). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Osteoarthritis (with total hip replacement) (OR=1.07). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs2862954 (ERLIN1) Source: https://orviva.ai/learn/snps/rs2862954 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) (β=0.032). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.010). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs2862996 (MIR670HG) Source: https://orviva.ai/learn/snps/rs2862996 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (β=0.019). [GWAS Catalog] - **TT** (typical): T allele associated with increased Concentration of large HDL particles (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501141 ## rs28642213 (GPSM1) Source: https://orviva.ai/learn/snps/rs28642213 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.082). [GWAS Catalog] - **AA** (increased): A allele associated with increased BMI at birth (β=0.062). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs2867125 (LINC01875 - TMEM18) Source: https://orviva.ai/learn/snps/rs2867125 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.016). [GWAS Catalog] - **TT** (typical): T allele associated with increased Type 2 diabetes (β=0.060). [GWAS Catalog] References: PMID:30054458; GWAS Catalog; GCST006867 ## rs286809 (FBXL17) Source: https://orviva.ai/learn/snps/rs286809 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.011). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Systolic blood pressure (OR=0.19). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs28680958 (ZBTB37) Source: https://orviva.ai/learn/snps/rs28680958 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased Alcohol consumption (drinks per week) (MTAG) (β=0.011). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.010). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007472 ## rs28681284 (CHRNA3) Source: https://orviva.ai/learn/snps/rs28681284 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking behaviour (cigarettes smoked per day) (β=0.049). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Schizophrenia (OR=1.11). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007459 ## rs28687557 (RAB27B) Source: https://orviva.ai/learn/snps/rs28687557 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (UKB data field 21001) (β=0.015). [GWAS Catalog] - **GG** (typical): G allele associated with increased Depressed affect (β=0.015). [GWAS Catalog] References: PMID:29942085; GWAS Catalog; GCST006475 ## rs28711886 (C14orf39 - SALRNA1) Source: https://orviva.ai/learn/snps/rs28711886 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.030). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Spherical equivalent (OR=0.10). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs287621 (KLF14 - LINC-PINT) Source: https://orviva.ai/learn/snps/rs287621 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased High density lipoprotein cholesterol levels (β=0.037). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-hip index (β=0.039). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs28817415 (SHROOM3) Source: https://orviva.ai/learn/snps/rs28817415 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased magnesium (Mg, minimum, inv-norm transformed) (β=0.058). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479680 ## rs28834970 (PTK2B) Source: https://orviva.ai/learn/snps/rs28834970 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with marginally increased risk of Alzheimer's disease (late onset) (OR=1.10). [GWAS Catalog] - **TT** (high): T allele associated with substantially increased risk of Alzheimer's disease or educational attainment (pleiotropy) (OR=42.38). [GWAS Catalog] References: PMID:34743297; GWAS Catalog; GCST90095190 ## rs2885697 (SCMH1) Source: https://orviva.ai/learn/snps/rs2885697 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased height (mean, inv-normal transformed) (β=0.091). [GWAS Catalog] - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.039). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475362 ## rs28857569 (HNF4G - RNU2-54P) Source: https://orviva.ai/learn/snps/rs28857569 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Diastolic blood pressure (β=0.014). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.023). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662909 ## rs2886722 (RPSAP22 - PARTICL) Source: https://orviva.ai/learn/snps/rs2886722 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Myocardial infarction (β=0.082). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (maximum, inv-normal transformed) (β=0.024). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479634 ## rs288766 (SHH - Y_RNA) Source: https://orviva.ai/learn/snps/rs288766 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.036). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum urate levels (β=0.016). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428446 ## rs2891403 (RPH3A) Source: https://orviva.ai/learn/snps/rs2891403 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Diastolic blood pressure (MTAG) (β=0.024). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.013). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs28932178 (NSD1) Source: https://orviva.ai/learn/snps/rs28932178 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.019). [GWAS Catalog] - **TT** (typical): T allele associated with increased High-density lipoprotein levels (β=0.013). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662894 ## rs2896635 (BMAL1) Source: https://orviva.ai/learn/snps/rs2896635 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.017). [GWAS Catalog] - **TT** (typical): T allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.019). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662893 ## rs2899472 (MIR4713HG, CYP19A1) Source: https://orviva.ai/learn/snps/rs2899472 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.026). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.011). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs2899611 (ALDH1A2) Source: https://orviva.ai/learn/snps/rs2899611 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with marginally increased risk of Osteoarthritis (with total knee replacement) (OR=1.06). [GWAS Catalog] - **GG** (increased): G allele associated with increased Hand grip strength right (UKB data field 47) (β=0.009). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566805 ## rs29001570 (ADH5) Source: https://orviva.ai/learn/snps/rs29001570 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Drinks per week (OR=0.14). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Gout (OR=0.80). [GWAS Catalog] References: PMID:39406924; GWAS Catalog; GCST90455677 ## rs2901785 (RABGAP1L-DT) Source: https://orviva.ai/learn/snps/rs2901785 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Educational attainment (β=0.014). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs2903492 (LINC01875 - TMEM18) Source: https://orviva.ai/learn/snps/rs2903492 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.012). [GWAS Catalog] - **AA** (high): A allele associated with substantially increased risk of Atrial fibrillation (MTAG) (OR=7.25). [GWAS Catalog] References: PMID:41022758; GWAS Catalog; GCST90668073 ## rs2908286 (GCK) Source: https://orviva.ai/learn/snps/rs2908286 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Fasting glucose adjusted for BMI (OR=0.12). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.068). [GWAS Catalog] References: PMID:34951656; GWAS Catalog; GCST90094959 ## rs2910032 (LINC01470) Source: https://orviva.ai/learn/snps/rs2910032 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Morningness (β=0.019). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Schizophrenia (OR=1.06). [GWAS Catalog] References: PMID:28991256; GWAS Catalog; GCST004946 ## rs2913925 (MYO1F) Source: https://orviva.ai/learn/snps/rs2913925 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.013). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglycerides x low social support interaction (2df test) (β=0.004). [GWAS Catalog] References: PMID:40537477; GWAS Catalog; GCST90570711 ## rs2917677 (NQO1) Source: https://orviva.ai/learn/snps/rs2917677 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.022). [GWAS Catalog] - **TT** (typical): T allele associated with increased Cholesteryl Esters to Total Lipids in Medium VLDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501209 ## rs2920503 (GSTM5P1 - PPARG) Source: https://orviva.ai/learn/snps/rs2920503 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.014). [GWAS Catalog] - **TT** (typical): T allele associated with increased LDL cholesterol (β=0.041). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs2921064 (LINC02950) Source: https://orviva.ai/learn/snps/rs2921064 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Free cholesterol to total lipids ratio in large HDL (β=0.037). [GWAS Catalog] - **TT** (typical): T allele associated with increased Omega-6 fatty acids to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092849 ## rs2924329 (TCF4, TCF4-AS1) Source: https://orviva.ai/learn/snps/rs2924329 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Depression (β=0.018). [GWAS Catalog] - **AA** (increased): A allele associated with increased Insomnia (β=0.006). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131901 ## rs2925339 (MAPKBP1) Source: https://orviva.ai/learn/snps/rs2925339 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Triglyceride to HDL cholesterol ratio (β=0.025). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.022). [GWAS Catalog] References: PMID:38200128; GWAS Catalog; GCST90295949 ## rs2929308 (PPP1R3B-DT) Source: https://orviva.ai/learn/snps/rs2929308 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.040). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.019). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs2934849 (PDE10A) Source: https://orviva.ai/learn/snps/rs2934849 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.008). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Diastolic blood pressure (OR=0.13). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs2943645 (NYAP2 - MIR5702) Source: https://orviva.ai/learn/snps/rs2943645 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased High-density lipoprotein levels (β=0.052). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (BMI, mean, inv-normal transformed) (β=0.044). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475156 ## rs2943647 (NYAP2 - MIR5702) Source: https://orviva.ai/learn/snps/rs2943647 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Cholesteryl Esters in Large HDL (β=0.040). [GWAS Catalog] - **TT** (increased): T allele associated with increased Abdominal adipose tissue volumes (adjusted for BMI and height) (β=0.043). [GWAS Catalog] References: PMID:35773277; GWAS Catalog; GCST90205204 ## rs2943648 (NYAP2 - MIR5702) Source: https://orviva.ai/learn/snps/rs2943648 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Type 2 diabetes (OR=1.09). [GWAS Catalog] - **AA** (increased): A allele associated with increased Gluteofemoral adipose tissue volumes (adjusted for BMI and height) (β=0.093). [GWAS Catalog] References: PMID:35773277; GWAS Catalog; GCST90205214 ## rs2943810 (LRRC10B - SYT7) Source: https://orviva.ai/learn/snps/rs2943810 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **CC** (typical): C allele associated with increased Systolic blood pressure (β=0.023). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Diastolic blood pressure (BMI unadjusted) (OR=0.51). [GWAS Catalog] References: PMID:39048560; GWAS Catalog; GCST90335164 ## rs2950790 (TEX41) Source: https://orviva.ai/learn/snps/rs2950790 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical / lower): A allele associated with slightly decreased risk of Clear cell renal cell carcinoma (OR=0.90). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.021). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245845 ## rs295268 (GKAP1) Source: https://orviva.ai/learn/snps/rs295268 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with marginally increased risk of Chronotype (OR=1.03). [GWAS Catalog] - **TT** (typical): T allele associated with increased Ratio of omega-6 fatty acids to total fatty acids (β=0.028). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092935 ## rs2954017 (TRIB1 - TRIB1AL) Source: https://orviva.ai/learn/snps/rs2954017 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Takes medication for high cholesterol? (OR=0.10). [GWAS Catalog] - **CC** (typical): C allele associated with increased Drinks per week (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs2954029 (TRIB1AL) Source: https://orviva.ai/learn/snps/rs2954029 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **AA** (typical): A allele associated with increased Triglycerides (β=0.083). [GWAS Catalog] - **TT** (typical): T allele associated with increased Iron status biomarkers (ferritin levels) (β=0.024). [GWAS Catalog] References: PMID:33536631; GWAS Catalog; GCST011369 ## rs2954031 (TRIB1AL) Source: https://orviva.ai/learn/snps/rs2954031 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (typical): G allele associated with increased Triglycerides (β=0.081). [GWAS Catalog] - **TT** (typical): T allele associated with increased Saturated fatty acids to total fatty acids percentage (β=0.056). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90499950 ## rs2954038 (TRIB1AL) Source: https://orviva.ai/learn/snps/rs2954038 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **CC** (typical / lower): C allele associated with decreased risk of triglyceride (minimum, inv-norm transformed) (OR=0.12). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Omega-6 fatty acids to total fatty acids percentage (OR=0.10). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90499170 ## rs2955617 (SHBG - ATP1B2) Source: https://orviva.ai/learn/snps/rs2955617 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Free Cholesterol in HDL (β=0.010). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist circumference adjusted for body mass index (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501114 ## rs2967614 (RAB11B) Source: https://orviva.ai/learn/snps/rs2967614 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical): A allele associated with increased TCN2 protein levels (β=0.038). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triglyceride to HDL cholesterol ratio (β=0.025). [GWAS Catalog] References: PMID:38200128; GWAS Catalog; GCST90295949 ## rs2968864 (AOC1 - KCNH2) Source: https://orviva.ai/learn/snps/rs2968864 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (slightly elevated): C allele associated with slightly increased risk of QT interval (OR=1.40). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.015). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009003 ## rs2972143 (NYAP2 - MIR5702) Source: https://orviva.ai/learn/snps/rs2972143 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Free Cholesterol to Total Lipids in Medium HDL percentage (β=0.040). [GWAS Catalog] - **AA** (typical): A allele associated with increased Ratio of linoleic acid to total fatty acids (β=0.028). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501187 ## rs2972144 (NYAP2 - MIR5702) Source: https://orviva.ai/learn/snps/rs2972144 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Triglyceride to phosphoglyceride ratio (β=0.040). [GWAS Catalog] - **AA** (increased): A allele associated with increased Modified Stumvoll Insulin Sensitivity Index (adjusted for BMI) (β=0.064). [GWAS Catalog] References: PMID:37291194; GWAS Catalog; GCST90267577 ## rs2973444 (LUCAT1, ADGRV1) Source: https://orviva.ai/learn/snps/rs2973444 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Serum urate levels (β=0.030). [GWAS Catalog] - **CC** (typical): C allele associated with increased Cystatin C levels (β=0.025). [GWAS Catalog] References: PMID:39406924; GWAS Catalog; GCST90455669 ## rs29797 (BNIP1) Source: https://orviva.ai/learn/snps/rs29797 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **CC** (slightly elevated): C allele associated with slightly increased risk of PR interval (OR=1.28). [GWAS Catalog] - **GG** (increased): G allele associated with increased Noncognitive aspects of educational attainment (β=0.041). [GWAS Catalog] References: PMID:33414549; GWAS Catalog; GCST90011874 ## rs2980755 (LINC02950 - RN7SL178P) Source: https://orviva.ai/learn/snps/rs2980755 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.025). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.018). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010244 ## rs2980858 (TRIB1AL) Source: https://orviva.ai/learn/snps/rs2980858 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased high density lipoprotein cholesterol (HDLC, maximum, inv-norm transformed) (β=0.082). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.010). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012106 ## rs2980888 (TRIB1AL) Source: https://orviva.ai/learn/snps/rs2980888 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Triglycerides to Total Lipids in IDL percentage (β=0.060). [GWAS Catalog] - **TT** (typical): T allele associated with increased Ratio of saturated fatty acids to total fatty acids (β=0.051). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092981 ## rs2981582 (FGFR2) Source: https://orviva.ai/learn/snps/rs2981582 (curated, human-reviewed; category: Health risk; effect allele A) - **AA** (slightly elevated): FGFR2 variant associated with increased breast cancer risk (1.26x per allele). - **AG / GA** (typical): Intermediate breast cancer risk at FGFR2. - **GG** (typical / lower): Lower breast cancer risk at FGFR2 locus. References: PMID:17529967; GWAS Catalog ## rs2982521 (LINC01625 - ATP5PBP6) Source: https://orviva.ai/learn/snps/rs2982521 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Free Cholesterol to Total Lipids in Medium LDL percentage (β=0.030). [GWAS Catalog] - **AA** (increased): A allele associated with increased Gluteofemoral adipose tissue volumes (adjusted for BMI and height) (β=0.055). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501199 ## rs2997084 (PDE4B) Source: https://orviva.ai/learn/snps/rs2997084 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Alcohol consumption (drinks per week) (MTAG) (β=0.010). [GWAS Catalog] - **CC** (increased): C allele associated with increased Insomnia (β=0.006). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131901 ## rs301807 (RERE, RERE-AS1) Source: https://orviva.ai/learn/snps/rs301807 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.011). [GWAS Catalog] - **AA** (typical): A allele associated with increased Diastolic blood pressure (β=0.015). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662909 ## rs3020333 (ESR1) Source: https://orviva.ai/learn/snps/rs3020333 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total body bone mineral density (β=0.059). [GWAS Catalog] References: PMID:29304378; GWAS Catalog; GCST005348 ## rs303760 (RMC1) Source: https://orviva.ai/learn/snps/rs303760 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.033). [GWAS Catalog] - **TT** (increased): T allele associated with increased Hand grip strength (β=0.002). [GWAS Catalog] References: PMID:29691431; GWAS Catalog; GCST005830 ## rs303948 (DACH1) Source: https://orviva.ai/learn/snps/rs303948 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.011). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs3043084 (KCNT2 - CFH) Source: https://orviva.ai/learn/snps/rs3043084 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Macular degeneration, dry (PheCode 362.21) (OR=0.59). [GWAS Catalog] - **GG** (typical): G allele associated with increased Calcium levels (β=0.017). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475851 ## rs306890 (SPRY3) Source: https://orviva.ai/learn/snps/rs306890 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.048). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.036). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007143 ## rs3091338 (IL3 - CSF2) Source: https://orviva.ai/learn/snps/rs3091338 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Hand grip strength (baseline) (β=0.008). [GWAS Catalog] - **TT** (slightly elevated): T allele associated with slightly increased risk of Crohn's disease (OR=1.23). [GWAS Catalog] References: PMID:22412388; GWAS Catalog; GCST001438 ## rs3095122 (HSPA12A) Source: https://orviva.ai/learn/snps/rs3095122 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs3095268 (SUMO2P1 - MOG) Source: https://orviva.ai/learn/snps/rs3095268 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Childhood body mass index (β=0.022). [GWAS Catalog] - **AA** (slightly elevated): A allele associated with slightly increased risk of Pan-squamous cell carcinoma (OR=1.28). [GWAS Catalog] References: PMID:39739889; GWAS Catalog; GCST90503208 ## rs3101336 (LINC02796) Source: https://orviva.ai/learn/snps/rs3101336 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.025). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Obesity (OR=1.12). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009004 ## rs3105751 (SLC22A3) Source: https://orviva.ai/learn/snps/rs3105751 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Prostate cancer (OR=0.11). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-hip index (β=0.021). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475185 ## rs3115631 (POLR1HASP) Source: https://orviva.ai/learn/snps/rs3115631 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.040). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Help-seeking from a GP (OR=1.06). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012230 ## rs3118470 (IL2RA) Source: https://orviva.ai/learn/snps/rs3118470 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (slightly elevated): C allele associated with slightly increased risk of Alopecia areata (OR=1.41). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Multiple sclerosis (OR=1.12). [GWAS Catalog] References: PMID:21833088; GWAS Catalog; GCST001198 ## rs3118905 (DLEU7, DLEU1) Source: https://orviva.ai/learn/snps/rs3118905 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of height (mean, inv-normal transformed) (OR=0.11). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.12). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475362 ## rs3118906 (DLEU1, DLEU7) Source: https://orviva.ai/learn/snps/rs3118906 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.050). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.024). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs3129813 (UBQLN1P1 - MICC) Source: https://orviva.ai/learn/snps/rs3129813 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Lung cancer or family history of lung cancer (OR=1.05). [GWAS Catalog] References: PMID:35511172; GWAS Catalog; GCST90243964 ## rs3130283 (AGPAT1, PPT2-EGFL8) Source: https://orviva.ai/learn/snps/rs3130283 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.062). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hand grip strength (baseline) (β=0.015). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs3130931 (TCF19, POU5F1) Source: https://orviva.ai/learn/snps/rs3130931 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.048). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.019). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245845 ## rs3132685 (POLR1HASP, HCG9) Source: https://orviva.ai/learn/snps/rs3132685 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Serum urate levels (β=0.036). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-3 fatty acid levels (β=0.039). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092931 ## rs3132880 (SNX31) Source: https://orviva.ai/learn/snps/rs3132880 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased IDP dMRI TBSS ISOVF Anterior corona radiata L (β=0.076). [GWAS Catalog] - **CC** (typical): C allele associated with increased Thalamus iron levels (quantitative susceptibility mapping) (β=0.042). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90004500 ## rs3135388 (HLA-DRB1) Source: https://orviva.ai/learn/snps/rs3135388 (curated, human-reviewed; category: Health risk; effect allele A) - **AA** (elevated): HLA-DRB1*15:01 tag SNP. Strong risk factor for multiple sclerosis (3x risk). - **AG / GA** (slightly elevated): Carrier of MS risk allele. Moderately increased MS risk. - **GG** (typical / lower): Typical MS risk at HLA-DRB1 locus. References: PMID:17660530; GWAS Catalog ## rs3135506 (APOA5) Source: https://orviva.ai/learn/snps/rs3135506 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (typical / lower): G allele associated with decreased risk of Triglycerides (OR=0.24). [GWAS Catalog] - **CC** (typical): C allele associated with increased Vitamin D levels (β=0.056). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019526 ## rs314376 (SLC12A9) Source: https://orviva.ai/learn/snps/rs314376 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.011). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.16). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132904 ## rs314779 (LRP5) Source: https://orviva.ai/learn/snps/rs314779 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (baseline) (β=0.014). [GWAS Catalog] - **GG** (typical): G allele associated with increased Systolic blood pressure (MTAG) (β=0.011). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs31490 (CLPTM1L) Source: https://orviva.ai/learn/snps/rs31490 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical / lower): A allele associated with slightly decreased risk of Lung cancer (conditioned on cigarettes per day) (OR=0.88). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cutaneous melanoma (MTAG) (β=0.086). [GWAS Catalog] References: PMID:34813871; GWAS Catalog; GCST90103971 ## rs3173615 (TMEM106B) Source: https://orviva.ai/learn/snps/rs3173615 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Body mass index (β=0.009). [GWAS Catalog] - **CC** (typical): C allele associated with increased HDL cholesterol (β=0.012). [GWAS Catalog] References: PMID:30275531; GWAS Catalog; GCST006611 ## rs3198697 (PDXDC1) Source: https://orviva.ai/learn/snps/rs3198697 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased Fatty acid(20:3)_[M-H]1- levels (β=0.056). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglycerides (β=0.027). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060117 ## rs3208856 (CBLC) Source: https://orviva.ai/learn/snps/rs3208856 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Low density lipoprotein cholesterol levels (OR=0.23). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.020). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007141 ## rs3213758 (RPGRIP1L) Source: https://orviva.ai/learn/snps/rs3213758 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Body mass index (β=0.025). [GWAS Catalog] - **AA** (elevated): A allele associated with significantly increased risk of Vitiligo (non-segmental) (OR=2.77). [GWAS Catalog] References: PMID:23678272; GWAS Catalog; GCST001992 ## rs3217870 (CCND2) Source: https://orviva.ai/learn/snps/rs3217870 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.012). [GWAS Catalog] - **TT** (typical): T allele associated with increased Colorectal cancer (β=0.059). [GWAS Catalog] References: PMID:38872215; GWAS Catalog; GCST90435268 ## rs325 (LPL) Source: https://orviva.ai/learn/snps/rs325 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Triglyceride levels (OR=0.18). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total fatty acids (β=0.093). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302118 ## rs329118 (JADE2) Source: https://orviva.ai/learn/snps/rs329118 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.028). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs330088 (PPP1R3B-DT) Source: https://orviva.ai/learn/snps/rs330088 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.018). [GWAS Catalog] - **TT** (typical): T allele associated with increased Osteoarthritis (MTAG) (β=0.014). [GWAS Catalog] References: PMID:40262193; GWAS Catalog; GCST90570208 ## rs331 (LPL) Source: https://orviva.ai/learn/snps/rs331 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Metabolic syndrome (OR=0.16). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Fasting monounsaturated fatty acids (16:1, 18:1) (OR=0.17). [GWAS Catalog] References: PMID:38201907; GWAS Catalog; GCST90454454 ## rs33972313 (SLC23A1) Source: https://orviva.ai/learn/snps/rs33972313 (curated, human-reviewed; category: Nutrition; effect allele T) - **TT** (increased): SLC23A1 variant. Significantly reduced vitamin C transport; lower plasma ascorbic acid levels. - **CT / TC** (increased): Reduced vitamin C absorption. May benefit from higher dietary intake. - **CC** (typical): Normal vitamin C transport and absorption. References: PMID:20335276 ## rs34060476 (MLXIPL) Source: https://orviva.ai/learn/snps/rs34060476 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Triglycerides to total lipids ratio in very large HDL (OR=0.12). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Monounsaturated fatty acids levels (UKB data field 23447) (OR=0.11). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269544 ## rs34072608 (ARID2) Source: https://orviva.ai/learn/snps/rs34072608 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.016). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662893 ## rs340874 (PROX1, PROX1-AS1) Source: https://orviva.ai/learn/snps/rs340874 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.067). [GWAS Catalog] - **TT** (increased): T allele associated with increased Fasting blood glucose (BMI interaction) (β=0.001). [GWAS Catalog] References: PMID:22581228; GWAS Catalog; GCST001527 ## rs34089598 (KLF3) Source: https://orviva.ai/learn/snps/rs34089598 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **CC** (increased): C allele associated with increased wg rh intensity-contrast superiorfrontal (β=0.086). [GWAS Catalog] - **AA** (typical): A allele associated with increased Pallidum iron levels (R2* MRI) (β=0.054). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551868 ## rs34093919 (LTBP4) Source: https://orviva.ai/learn/snps/rs34093919 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Standing height (UKB data field 50) (β=0.047). [GWAS Catalog] - **GG** (typical): G allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.078). [GWAS Catalog] References: PMID:37069358; GWAS Catalog; GCST90244098 ## rs34121753 (DNAH2) Source: https://orviva.ai/learn/snps/rs34121753 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Alcohol consumption (drinks per week) (MTAG) (β=0.010). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (baseline) (β=0.008). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007472 ## rs34149579 (HIP1R) Source: https://orviva.ai/learn/snps/rs34149579 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased High density lipoprotein cholesterol levels (β=0.047). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.033). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019510 ## rs34173062 (SHARPIN, MAF1) Source: https://orviva.ai/learn/snps/rs34173062 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Body mass index (BMI, mean, inv-normal transformed) (β=0.055). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Alzheimer's disease (OR=1.13). [GWAS Catalog] References: PMID:35379992; GWAS Catalog; GCST90027158 ## rs34196306 (ZNF184) Source: https://orviva.ai/learn/snps/rs34196306 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Childhood body mass index (β=0.029). [GWAS Catalog] - **CC** (typical): C allele associated with increased Breast cancer (β=0.075). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301649 ## rs34232196 (BSND - PCSK9) Source: https://orviva.ai/learn/snps/rs34232196 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with slightly decreased risk of Coronary artery disease (OR=0.95). [GWAS Catalog] - **CC** (typical): C allele associated with increased Total omega-6 fatty acid levels (β=0.032). [GWAS Catalog] References: PMID:35692035; GWAS Catalog; GCST90133364 ## rs34244947 (ZNF322 - GUSBP2) Source: https://orviva.ai/learn/snps/rs34244947 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Cognitive performance (MTAG) (β=0.037). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Lung cancer (OR=1.14). [GWAS Catalog] References: PMID:28604730; GWAS Catalog; GCST004748 ## rs34298980 (LRFN2) Source: https://orviva.ai/learn/snps/rs34298980 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (BMI, mean, inv-normal transformed) (β=0.050). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.035). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475156 ## rs34311866 (TMEM175) Source: https://orviva.ai/learn/snps/rs34311866 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Parkinson's disease or first degree relation to individual with Parkinson's d... (OR=0.21). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.031). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs34342646 (NECTIN2, LNCOB1) Source: https://orviva.ai/learn/snps/rs34342646 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Metabolic syndrome (OR=0.13). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Cerebral amyloid deposition (PET imaging) (OR=0.17). [GWAS Catalog] References: PMID:30361487; GWAS Catalog; GCST006904 ## rs34360 (ANKDD1B) Source: https://orviva.ai/learn/snps/rs34360 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (β=0.027). [GWAS Catalog] - **CC** (typical): C allele associated with increased Concentration of very large HDL particles (β=0.035). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009001 ## rs34394770 (COG6) Source: https://orviva.ai/learn/snps/rs34394770 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.015). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Psoriasis (OR=1.16). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018739 ## rs34404554 (TOMM40) Source: https://orviva.ai/learn/snps/rs34404554 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Cerebral amyloid deposition (PET imaging) (OR=0.13). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Metabolic syndrome (OR=0.13). [GWAS Catalog] References: PMID:30361487; GWAS Catalog; GCST006904 ## rs34406563 (DGKZ) Source: https://orviva.ai/learn/snps/rs34406563 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.016). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total body bone mineral density (β=0.054). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs34408666 (CASR) Source: https://orviva.ai/learn/snps/rs34408666 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Calcium (mean, inv-norm transformed) (OR=0.21). [GWAS Catalog] - **AA** (increased): A allele associated with increased Educational attainment (β=0.009). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs34421088 (GATA4) Source: https://orviva.ai/learn/snps/rs34421088 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Average diameter for VLDL particles (β=0.041). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.020). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018947 ## rs34434863 (HLA-DRB1 - HLA-DQA1) Source: https://orviva.ai/learn/snps/rs34434863 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **TT** (typical / lower): T allele associated with decreased risk of Rheumatoid arthritis (PheCode 714.1) (OR=0.49). [GWAS Catalog] - **GG** (typical): G allele associated with increased TCN1 protein levels (β=0.053). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90470819 ## rs34457487 (MOBP) Source: https://orviva.ai/learn/snps/rs34457487 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Putamen iron levels (quantitative susceptibility mapping) (β=0.055). [GWAS Catalog] - **AA** (increased): A allele associated with increased wg lh intensity-contrast paracentral (β=0.063). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551869 ## rs34468875 (TDRD15 - NUTF2P8) Source: https://orviva.ai/learn/snps/rs34468875 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased Total fatty acids (β=0.066). [GWAS Catalog] - **CC** (typical): C allele associated with increased Cholesteryl esters to total lipids ratio in chylomicrons and extremely large ... (β=0.051). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302118 ## rs34470922 (ZNF366 - TNPO1-DT) Source: https://orviva.ai/learn/snps/rs34470922 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.028). [GWAS Catalog] - **CC** (typical): C allele associated with increased Total cholesterol levels (β=0.031). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018974 ## rs34506349 (AFF3) Source: https://orviva.ai/learn/snps/rs34506349 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (high): A allele associated with substantially increased risk of General cognitive ability (OR=5.92). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.067). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs34517439 (GIPC2, DNAJB4) Source: https://orviva.ai/learn/snps/rs34517439 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (typical / lower): C allele associated with decreased risk of height (mean, inv-normal transformed) (OR=0.10). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.23). [GWAS Catalog] References: PMID:30224653; GWAS Catalog; GCST006630 ## rs34536443 (TYK2) Source: https://orviva.ai/learn/snps/rs34536443 (imported from public databases, not individually reviewed; category: Drug response; effect allele C) - **CC** (reduced): C allele associated with decreased risk of IFNAR1 protein levels (OR=0.17). [GWAS Catalog] - **GG** (elevated): G allele associated with moderately increased risk of Psoriasis (OR=1.88). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90469512 ## rs34553878 (PRRC2B) Source: https://orviva.ai/learn/snps/rs34553878 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.012). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs34580448 (VCAN) Source: https://orviva.ai/learn/snps/rs34580448 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.040). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.047). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662893 ## rs34633531 (ZNF341) Source: https://orviva.ai/learn/snps/rs34633531 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with marginally increased risk of Prostate cancer (OR=1.05). [GWAS Catalog] - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.025). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs34635647 (PSCA, JRK) Source: https://orviva.ai/learn/snps/rs34635647 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Gastric ulcer (OR=0.14). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.015). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs34647936 (GATAD2A) Source: https://orviva.ai/learn/snps/rs34647936 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Height (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Headache or fasting glucose levels (OR=1.02). [GWAS Catalog] References: PMID:36808568; GWAS Catalog; GCST90281119 ## rs34651 (TNPO1) Source: https://orviva.ai/learn/snps/rs34651 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased height (mean, inv-normal transformed) (β=0.094). [GWAS Catalog] - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.059). [GWAS Catalog] References: PMID:40645996; GWAS Catalog; GCST90624411 ## rs34666276 (FLJ40194, ZNF652) Source: https://orviva.ai/learn/snps/rs34666276 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Atopic dermatitis (β=0.083). [GWAS Catalog] - **CC** (typical): C allele associated with increased Polyunsaturated fatty acids to monounsaturated fatty acids ratio (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501230 ## rs34681760 (LINC02102 - TENT4A) Source: https://orviva.ai/learn/snps/rs34681760 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Multiple sclerosis (OR=1.08). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662911 ## rs34707604 (UGT2B17 - UGT2B15) Source: https://orviva.ai/learn/snps/rs34707604 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Triglycerides in IDL (β=0.030). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total omega-3 fatty acid levels (β=0.046). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501131 ## rs34748838 (KLF14 - LINC-PINT) Source: https://orviva.ai/learn/snps/rs34748838 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Hip circumference (UKB data field 49) (β=0.018). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglyceride levels (β=0.032). [GWAS Catalog] References: PMID:40210677; GWAS Catalog; GCST90528079 ## rs34783010 (GIPR) Source: https://orviva.ai/learn/snps/rs34783010 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Obesity (PheCode 278.1) (β=0.059). [GWAS Catalog] - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.015). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479952 ## rs348196 (DAP3) Source: https://orviva.ai/learn/snps/rs348196 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.012). [GWAS Catalog] - **CC** (typical): C allele associated with increased Breast cancer (β=0.041). [GWAS Catalog] References: PMID:29059683; GWAS Catalog; GCST004988 ## rs34877991 (LIMD1) Source: https://orviva.ai/learn/snps/rs34877991 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Body mass index (β=0.012). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.17). [GWAS Catalog] References: PMID:30578418; GWAS Catalog; GCST007267 ## rs34884217 (TMEM175) Source: https://orviva.ai/learn/snps/rs34884217 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with slightly decreased risk of Osteoarthritis (OR=0.97). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.028). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566795 ## rs34894639 (PPP2R3A) Source: https://orviva.ai/learn/snps/rs34894639 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Phospholipid levels in VLDL (β=0.040). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Waist circumference (OR=0.24). [GWAS Catalog] References: PMID:31928498; GWAS Catalog; GCST010659 ## rs34898535 (STX1B - STX4) Source: https://orviva.ai/learn/snps/rs34898535 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Hip circumference (UKB data field 49) (β=0.023). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglycerides (β=0.015). [GWAS Catalog] References: PMID:33980691; GWAS Catalog; GCST90020235 ## rs34929649 (EHMT2) Source: https://orviva.ai/learn/snps/rs34929649 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased A body shape index (β=0.022). [GWAS Catalog] - **TT** (typical): T allele associated with increased Primary open angle glaucoma (multi-trait analysis) (β=0.050). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020024 ## rs34955778 (PDXDC1, NTAN1) Source: https://orviva.ai/learn/snps/rs34955778 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with increased Polyunsaturated fatty acid levels (β=0.030). [GWAS Catalog] - **CC** (typical): C allele associated with increased Total lipids in medium HDL (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501188 ## rs34958196 (MLXIPL - VPS37D) Source: https://orviva.ai/learn/snps/rs34958196 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased Alcohol consumption (drinks per week) (MTAG) (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with increased Metabolic syndrome (β=0.091). [GWAS Catalog] References: PMID:32451486; GWAS Catalog; GCST010543 ## rs34967813 (RYR2) Source: https://orviva.ai/learn/snps/rs34967813 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased Spatial QRS-T angle (β=0.031). [GWAS Catalog] References: PMID:36918541; GWAS Catalog; GCST90246318 ## rs35000407 (PPARG) Source: https://orviva.ai/learn/snps/rs35000407 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Triglycerides in very large VLDL (β=0.030). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.050). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479521 ## rs35039375 (PRRC2C) Source: https://orviva.ai/learn/snps/rs35039375 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (MTAG) (β=0.018). [GWAS Catalog] - **GG** (typical): G allele associated with increased HDL cholesterol (β=0.021). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006571 ## rs35063026 (SPATA33) Source: https://orviva.ai/learn/snps/rs35063026 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (slightly elevated): T allele associated with slightly increased risk of Squamous cell carcinoma (OR=1.33). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Blond vs. brown/black hair color (OR=0.74). [GWAS Catalog] References: PMID:34737440; GWAS Catalog; GCST90095476 ## rs350885 (Metazoa_SRP - CREB3L3) Source: https://orviva.ai/learn/snps/rs350885 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Height (β=0.009). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglyceride levels (β=0.017). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239664 ## rs35106244 (FUT2) Source: https://orviva.ai/learn/snps/rs35106244 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased LDL cholesterol (β=0.029). [GWAS Catalog] - **CC** (typical): C allele associated with increased Omega-6 fatty acid levels (β=0.024). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092933 ## rs35143646 (ARSL) Source: https://orviva.ai/learn/snps/rs35143646 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Low density lipoprotein cholesterol levels (β=0.018). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.006). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs35155027 (C14orf39 - SALRNA1) Source: https://orviva.ai/learn/snps/rs35155027 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.022). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Glaucoma (multi-trait analysis) (OR=1.09). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018739 ## rs35162296 (H4C8 - H3C9P) Source: https://orviva.ai/learn/snps/rs35162296 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Serum urate levels (β=0.064). [GWAS Catalog] - **CC** (increased): C allele associated with increased Childhood body mass index (β=0.030). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319906 ## rs35194449 (BCAS1 - CYP24A1) Source: https://orviva.ai/learn/snps/rs35194449 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Calcium (maximum, inv-norm transformed) (β=0.051). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Kidney stone disease (OR=0.88). [GWAS Catalog] References: PMID:40216741; GWAS Catalog; GCST90652506 ## rs35198068 (TCF7L2) Source: https://orviva.ai/learn/snps/rs35198068 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (BMI, minimum, inv-normal transformed) (β=0.060). [GWAS Catalog] - **CC** (slightly elevated): C allele associated with slightly increased risk of Psoriasis or type 2 diabetes (trans-disease meta-analysis)(opposite effect) (OR=1.21). [GWAS Catalog] References: PMID:33385400; GWAS Catalog; GCST011990 ## rs35225200 (BANK1 - SLC39A8) Source: https://orviva.ai/learn/snps/rs35225200 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Osteoarthritis, localized (PheCode 740.1) (β=0.096). [GWAS Catalog] - **CC** (typical): C allele associated with increased Docosahexaenoic acid to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476254 ## rs35327580 (AMBRA1) Source: https://orviva.ai/learn/snps/rs35327580 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased DXA-Bone mineral density (spine) (UKB data field 23234) (β=0.063). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.014). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs35332062 (MLXIPL) Source: https://orviva.ai/learn/snps/rs35332062 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased High-density lipoprotein levels (β=0.045). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (additive genetic model) (β=0.021). [GWAS Catalog] References: PMID:30778226; GWAS Catalog; GCST007487 ## rs35336243 (APOC1P1 - APOC4) Source: https://orviva.ai/learn/snps/rs35336243 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased Ratio of 22:6 docosahexaenoic acid to total fatty acids (β=0.028). [GWAS Catalog] - **TT** (slightly elevated): T allele associated with slightly increased risk of Alzheimer's disease (onset between ages 58 and 79) (OR=1.24). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90301956 ## rs35346733 (CNTN4) Source: https://orviva.ai/learn/snps/rs35346733 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Chronotype (OR=1.03). [GWAS Catalog] - **AA** (typical): A allele associated with increased Bipolar disorder (MTAG) (β=0.082). [GWAS Catalog] References: PMID:30696823; GWAS Catalog; GCST007576 ## rs35348663 (TBL2) Source: https://orviva.ai/learn/snps/rs35348663 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Putamen iron levels (quantitative susceptibility mapping) (β=0.094). [GWAS Catalog] - **CC** (increased): C allele associated with increased IDP SWI T2star right putamen (β=0.083). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90003868 ## rs35434 (TBX3-AS1 - UBA52P7) Source: https://orviva.ai/learn/snps/rs35434 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Mean arterial pressure (BMI unadjusted) (OR=0.51). [GWAS Catalog] - **AA** (typical): A allele associated with increased Hypertension (β=0.091). [GWAS Catalog] References: PMID:30487518; GWAS Catalog; GCST007707 ## rs35465966 (LPL - RPL30P9) Source: https://orviva.ai/learn/snps/rs35465966 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Metabolic syndrome (OR=0.15). [GWAS Catalog] - **AA** (typical): A allele associated with increased Ratio of omega-3 fatty acids to total fatty acids (β=0.026). [GWAS Catalog] References: PMID:38201907; GWAS Catalog; GCST90454454 ## rs35564340 (NKX2-3 - SLC25A28) Source: https://orviva.ai/learn/snps/rs35564340 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Colorectal cancer (β=0.090). [GWAS Catalog] - **GG** (typical): G allele associated with increased ferritin (mean, inv-norm transformed) (β=0.041). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479611 ## rs356183 (SNCA) Source: https://orviva.ai/learn/snps/rs356183 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Parkinson's disease (OR=0.12). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.014). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480008 ## rs35633876 (RPS16P2 - RN7SL140P) Source: https://orviva.ai/learn/snps/rs35633876 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.008). [GWAS Catalog] - **TT** (typical): T allele associated with increased Free cholesterol in HDL (UKB data field 23422) (β=0.031). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs356480 (RNU6-236P - PSD2-AS1) Source: https://orviva.ai/learn/snps/rs356480 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with increased High-density lipoprotein levels (β=0.012). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs35742686 (CYP2D6) Source: https://orviva.ai/learn/snps/rs35742686 (curated, human-reviewed; category: Drug response; effect allele delA) - **delA** (reduced): CYP2D6*3 carrier (2549delA frameshift). Loss of CYP2D6 function; affects codeine, tramadol, tamoxifen metabolism. References: CPIC; PharmVar ## rs35749174 (CHMP1A) Source: https://orviva.ai/learn/snps/rs35749174 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (high): G allele associated with substantially increased risk of Red vs. brown/black hair color (OR=4.10). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Basal cell carcinoma (OR=0.28). [GWAS Catalog] References: PMID:33549134; GWAS Catalog; GCST90013410 ## rs35768595 (MIR3143 - RPL10P2) Source: https://orviva.ai/learn/snps/rs35768595 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Cognitive aspects of educational attainment (OR=0.11). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Lung cancer (OR=1.14). [GWAS Catalog] References: PMID:33414549; GWAS Catalog; GCST90011875 ## rs35816944 (SPSB3, EME2) Source: https://orviva.ai/learn/snps/rs35816944 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Standing height (UKB data field 50) (β=0.049). [GWAS Catalog] - **GG** (elevated): G allele associated with significantly increased risk of PR interval (OR=2.70). [GWAS Catalog] References: PMID:32439900; GWAS Catalog; GCST010321 ## rs35848276 (HNRNPA1P1 - CD83P1) Source: https://orviva.ai/learn/snps/rs35848276 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased A body shape index (β=0.032). [GWAS Catalog] - **CC** (typical): C allele associated with increased Phospholipid levels in medium HDL (β=0.036). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092900 ## rs35851103 (DEFB131E - VPS51P12) Source: https://orviva.ai/learn/snps/rs35851103 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Waist-hip index (β=0.024). [GWAS Catalog] - **TT** (typical): T allele associated with increased Osteoarthritis (MTAG) (β=0.014). [GWAS Catalog] References: PMID:40262193; GWAS Catalog; GCST90570208 ## rs35851551 (ADCYAP1R1 - NEUROD6) Source: https://orviva.ai/learn/snps/rs35851551 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.016). [GWAS Catalog] - **GG** (increased): G allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs35853021 (ALDH1A2) Source: https://orviva.ai/learn/snps/rs35853021 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (typical): G allele associated with increased Cholesterol to total lipids ratio in medium HDL (β=0.060). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Fasting omega-3 fatty acids (OR=0.14). [GWAS Catalog] References: PMID:34610981; GWAS Catalog; GCST90091514 ## rs35859536 (SLC30A8 - MED30) Source: https://orviva.ai/learn/snps/rs35859536 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Type 2 diabetes (OR=0.14). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Type 2 diabetes (adjusted for BMI) (OR=0.11). [GWAS Catalog] References: PMID:39379762; GWAS Catalog; GCST90444202 ## rs35895680 (GIP - IGF2BP1) Source: https://orviva.ai/learn/snps/rs35895680 (imported from public databases, not individually reviewed; category: Drug response; effect allele A) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.056). [GWAS Catalog] - **AA** (typical): A allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.020). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428448 ## rs359252 (RNA5SP94 - MIR4432HG) Source: https://orviva.ai/learn/snps/rs359252 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (increased): C allele associated with increased Smoking cessation (MTAG) (β=0.009). [GWAS Catalog] - **TT** (typical): T allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.017). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454484 ## rs35929923 (ASS1P11 - RNU1-15P) Source: https://orviva.ai/learn/snps/rs35929923 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (MTAG) (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006571 ## rs35932591 (LINC01101 - Y_RNA) Source: https://orviva.ai/learn/snps/rs35932591 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglyceride to phosphoglyceride ratio (β=0.025). [GWAS Catalog] - **CC** (increased): C allele associated with increased Visceral adipose tissue volumes (adjusted for BMI and height) (β=0.061). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454483 ## rs359457 (LINC01485 - CPEB4) Source: https://orviva.ai/learn/snps/rs359457 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased A body shape index (β=0.024). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Crohn's disease (OR=1.08). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020024 ## rs35957544 (RNA5SP271 - KCNB2) Source: https://orviva.ai/learn/snps/rs35957544 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.023). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triglyceride to HDL cholesterol ratio (β=0.017). [GWAS Catalog] References: PMID:38538606; GWAS Catalog; GCST90428119 ## rs359974 (IHH - NHEJ1) Source: https://orviva.ai/learn/snps/rs359974 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.013). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Knee osteoarthritis (OR=1.04). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566800 ## rs360156 (SWAP70) Source: https://orviva.ai/learn/snps/rs360156 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with slightly decreased risk of Ischemic stroke (OR=0.96). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Mean arterial pressure (BMI unadjusted) (OR=0.40). [GWAS Catalog] References: PMID:39048560; GWAS Catalog; GCST90335168 ## rs36018387 (PPARD) Source: https://orviva.ai/learn/snps/rs36018387 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.038). [GWAS Catalog] - **TT** (typical): T allele associated with increased Low-density lipoprotein levels (MTAG) (β=0.019). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179148 ## rs36058389 (ALKBH5 - LLGL1) Source: https://orviva.ai/learn/snps/rs36058389 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.015). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs36061954 (FGFR1 - LINC03042) Source: https://orviva.ai/learn/snps/rs36061954 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-hip ratio (β=0.015). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs36062478 (PTEN) Source: https://orviva.ai/learn/snps/rs36062478 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.039). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Ambidextrousness (OR=0.94). [GWAS Catalog] References: PMID:32989287; GWAS Catalog; GCST90013420 ## rs36069781 (PNPLA3) Source: https://orviva.ai/learn/snps/rs36069781 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Triacylglycerol(56:6)_[M+NH4]1+ levels (β=0.075). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.016). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs36104352 (ENTPD4-DT - SLC25A37) Source: https://orviva.ai/learn/snps/rs36104352 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (typical): A allele associated with increased Calcium (maximum, inv-norm transformed) (β=0.061). [GWAS Catalog] - **CC** (typical / lower): C allele associated with slightly decreased risk of Type 1 diabetes (OR=0.86). [GWAS Catalog] References: PMID:39749473; GWAS Catalog; GCST90013791 ## rs36112366 (CHCHD7 - SDR16C5) Source: https://orviva.ai/learn/snps/rs36112366 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Height (β=0.072). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.016). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662893 ## rs3732837 (MRAS) Source: https://orviva.ai/learn/snps/rs3732837 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Coronary artery disease (β=0.063). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.013). [GWAS Catalog] References: PMID:29212778; GWAS Catalog; GCST005194 ## rs3736228 (LRP5) Source: https://orviva.ai/learn/snps/rs3736228 (curated, human-reviewed; category: Health risk; effect allele T) - **TT** (elevated): LRP5 A1330V homozygous. Reduced bone mineral density; increased fracture and osteoporosis risk. - **CT / TC** (slightly elevated): LRP5 carrier. Moderately reduced bone density. - **CC** (typical / lower): Normal bone mineral density at LRP5 locus. References: PMID:18455228; GWAS Catalog ## rs3737136 (WNT2B) Source: https://orviva.ai/learn/snps/rs3737136 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.25). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Height (standard GWA) (OR=0.16). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132904 ## rs3737992 (NHSL3) Source: https://orviva.ai/learn/snps/rs3737992 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Adult body size (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with increased High-density lipoprotein levels (MTAG) (β=0.020). [GWAS Catalog] References: PMID:32376654; GWAS Catalog; GCST010988 ## rs3739239 (SLC45A4) Source: https://orviva.ai/learn/snps/rs3739239 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with increased Drinks per week (β=0.009). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs3741298 (ZPR1) Source: https://orviva.ai/learn/snps/rs3741298 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Triglycerides (OR=0.18). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Fasting omega-6 fatty acids (OR=0.23). [GWAS Catalog] References: PMID:34610981; GWAS Catalog; GCST90091515 ## rs3741508 (NCOR2) Source: https://orviva.ai/learn/snps/rs3741508 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased BMI at 8 months old (β=0.083). [GWAS Catalog] - **GG** (typical): G allele associated with increased Atrial fibrillation (β=0.044). [GWAS Catalog] References: PMID:36653681; GWAS Catalog; GCST90204201 ## rs3742366 (ZFYVE21) Source: https://orviva.ai/learn/snps/rs3742366 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.008). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.009). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs3744760 (PLCD3) Source: https://orviva.ai/learn/snps/rs3744760 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Insomnia (β=0.007). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.42). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131901 ## rs3745274 (CYP2B6) Source: https://orviva.ai/learn/snps/rs3745274 (curated, human-reviewed; category: Drug response; effect allele T) - **TT** (increased): CYP2B6*6 homozygous slow metabolizer. Increased efavirenz levels; higher risk of CNS side effects. Dose reduction recommended. - **GT / TG** (increased): CYP2B6*6 carrier. Intermediate metabolizer; monitor for efavirenz side effects. - **GG** (typical): Normal CYP2B6 metabolism. Standard efavirenz dosing. References: CPIC; PMID:31006110; PharmGKB ## rs3745473 (NOSIP, PRRG2) Source: https://orviva.ai/learn/snps/rs3745473 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Drinks per week (β=0.007). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Youthful appearance (self-reported) (OR=1.03). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs3749147 (GPN1) Source: https://orviva.ai/learn/snps/rs3749147 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (high): A allele associated with substantially increased risk of Triglyceride levels (OR=6.60). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Waist Circumference - Triglycerides (WC-TG) (OR=0.18). [GWAS Catalog] References: PMID:33763119; GWAS Catalog; GCST90093142 ## rs3749971 (OR12D3, OR5V1) Source: https://orviva.ai/learn/snps/rs3749971 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Fluid intelligence score (baseline) (β=0.038). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Chronic obstructive pulmonary disease (OR=1.11). [GWAS Catalog] References: PMID:33909500; GWAS Catalog; GCST011766 ## rs3750996 (STIM1) Source: https://orviva.ai/learn/snps/rs3750996 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with marginally increased risk of Systemic lupus erythematosus (OR=1.17). [GWAS Catalog] - **GG** (typical): G allele associated with increased Calcium levels (β=0.037). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018951 ## rs3753639 (ZBTB7B) Source: https://orviva.ai/learn/snps/rs3753639 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.016). [GWAS Catalog] - **TT** (typical): T allele associated with increased Prostate cancer (β=0.075). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs3756173 (GPR78, CPZ) Source: https://orviva.ai/learn/snps/rs3756173 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased height (mean, inv-normal transformed) (β=0.069). [GWAS Catalog] - **TT** (typical): T allele associated with increased Systolic blood pressure (β=0.009). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662908 ## rs3757387 (IRF5) Source: https://orviva.ai/learn/snps/rs3757387 (imported from public databases, not individually reviewed; category: Drug response; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Systemic lupus erythematosus (OR=0.69). [GWAS Catalog] - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.006). [GWAS Catalog] References: PMID:34272381; GWAS Catalog; GCST90103635 ## rs3758413 (VIM-AS1) Source: https://orviva.ai/learn/snps/rs3758413 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased total cholesterol (minimum, inv-norm transformed) (β=0.024). [GWAS Catalog] - **CC** (typical): C allele associated with increased Polyunsaturated fatty acid levels (β=0.020). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476427 ## rs3759582 (TRMT61A) Source: https://orviva.ai/learn/snps/rs3759582 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (baseline) (β=0.022). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of PR interval (OR=0.59). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs3760775 (FUT6 - FUT3) Source: https://orviva.ai/learn/snps/rs3760775 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Vitamin B12 levels (OR=0.25). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.023). [GWAS Catalog] References: PMID:28334792; GWAS Catalog; GCST004161 ## rs3763745 (CCDC6 - LINC01553) Source: https://orviva.ai/learn/snps/rs3763745 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.015). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs3764261 (HERPUD1 - CETP) Source: https://orviva.ai/learn/snps/rs3764261 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (typical / lower): A allele associated with decreased risk of HDL cholesterol levels (OR=0.24). [GWAS Catalog] - **CC** (typical): C allele associated with increased Omega-6 fatty acid levels (β=0.062). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092933 ## rs3764351 (PNMT) Source: https://orviva.ai/learn/snps/rs3764351 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Free cholesterol to total lipids ratio in medium HDL (β=0.027). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.015). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092897 ## rs3767962 (DR1) Source: https://orviva.ai/learn/snps/rs3767962 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.018). [GWAS Catalog] - **GG** (typical): G allele associated with increased Linoleic acid to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501171 ## rs3770586 (ABCB11) Source: https://orviva.ai/learn/snps/rs3770586 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Cholesteryl Esters to Total Lipids in Chylomicrons and Extremely Large VLDL p... (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Polyunsaturated fatty acid levels (β=0.024). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092939 ## rs3775067 (ADD1) Source: https://orviva.ai/learn/snps/rs3775067 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.014). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.008). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239664 ## rs3775948 (SLC2A9) Source: https://orviva.ai/learn/snps/rs3775948 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **CC** (typical / lower): C allele associated with decreased risk of Serum uric acid levels (OR=0.26). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Hyperuricemia in low folate intake (OR=0.68). [GWAS Catalog] References: PMID:40835619; GWAS Catalog; GCST90693181 ## rs377763 (NOTCH4 - TSBP1-AS1) Source: https://orviva.ai/learn/snps/rs377763 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.020). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.27). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs3778519 (GMDS) Source: https://orviva.ai/learn/snps/rs3778519 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Primary open angle glaucoma (MTAG) (β=0.087). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.009). [GWAS Catalog] References: PMID:37386247; GWAS Catalog; GCST90310210 ## rs3778607 (IRF4) Source: https://orviva.ai/learn/snps/rs3778607 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical): A allele associated with marginally increased risk of Blond vs. brown/black hair color (OR=1.08). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Hypothyroidism (OR=1.06). [GWAS Catalog] References: PMID:39067062; GWAS Catalog; GCST90319320 ## rs3780190 (QSOX2) Source: https://orviva.ai/learn/snps/rs3780190 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total cholesterol levels (β=0.015). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs3786920 (PEPD) Source: https://orviva.ai/learn/snps/rs3786920 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Triglycerides in medium VLDL (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Gluteofemoral adipose tissue volumes (adjusted for BMI and height) (β=0.051). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501216 ## rs3789129 (ACOXL) Source: https://orviva.ai/learn/snps/rs3789129 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Total cholesterol levels (β=0.012). [GWAS Catalog] - **AA** (slightly elevated): A allele associated with slightly increased risk of Alopecia areata (OR=1.31). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239676 ## rs3790613 (UBAP2L) Source: https://orviva.ai/learn/snps/rs3790613 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs3795530 (SGIP1) Source: https://orviva.ai/learn/snps/rs3795530 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs3800229 (FOXO3) Source: https://orviva.ai/learn/snps/rs3800229 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (β=0.018). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.16). [GWAS Catalog] References: PMID:33230300; GWAS Catalog; GCST90292477 ## rs3801289 (DLX6-AS1, DLX6) Source: https://orviva.ai/learn/snps/rs3801289 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.011). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs3802230 (CYP11B2, GML) Source: https://orviva.ai/learn/snps/rs3802230 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.15). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.010). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs3802457 (AOPEP) Source: https://orviva.ai/learn/snps/rs3802457 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (slightly elevated): G allele associated with slightly increased risk of Polycystic ovary syndrome (OR=1.30). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.013). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs3803800 (TNFSF12-TNFSF13, TNFSF13) Source: https://orviva.ai/learn/snps/rs3803800 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased High-density lipoprotein levels (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased Alcohol consumption (drinks per week) (MTAG) (β=0.011). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007472 ## rs3805663 (PITX1) Source: https://orviva.ai/learn/snps/rs3805663 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (increased): A allele associated with increased Height (β=0.025). [GWAS Catalog] - **TT** (slightly elevated): T allele associated with slightly increased risk of Testicular germ cell tumor (OR=1.25). [GWAS Catalog] References: PMID:23666240; GWAS Catalog; GCST002022 ## rs3809095 (SOX6, C11orf58) Source: https://orviva.ai/learn/snps/rs3809095 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.006). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total body bone mineral density (β=0.045). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs3809192 (RNFT2) Source: https://orviva.ai/learn/snps/rs3809192 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Free Cholesterol to Total Lipids in Small LDL percentage (β=0.020). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.012). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501251 ## rs3812316 (MLXIPL) Source: https://orviva.ai/learn/snps/rs3812316 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **CC** (typical / lower): C allele associated with decreased risk of triglyceride (mean, inv-norm transformed) (OR=0.18). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Monounsaturated fatty acid levels (OR=0.11). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501218 ## rs3812945 (SCAMP5) Source: https://orviva.ai/learn/snps/rs3812945 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.008). [GWAS Catalog] - **TT** (typical): T allele associated with increased LDL cholesterol (β=0.014). [GWAS Catalog] References: PMID:30275531; GWAS Catalog; GCST006612 ## rs3813582 (MAFTRR, LINC01229) Source: https://orviva.ai/learn/snps/rs3813582 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.025). [GWAS Catalog] - **TT** (typical): T allele associated with increased Thyroid function (β=0.068). [GWAS Catalog] References: PMID:22494929; GWAS Catalog; GCST001487 ## rs3814424 (MIR9-2HG) Source: https://orviva.ai/learn/snps/rs3814424 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (β=0.030). [GWAS Catalog] - **CC** (typical): C allele associated with increased Depression (β=0.034). [GWAS Catalog] References: PMID:33859377; GWAS Catalog; GCST012355 ## rs3814883 (TAOK2) Source: https://orviva.ai/learn/snps/rs3814883 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.023). [GWAS Catalog] - **TT** (typical): T allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs3816605 (NUP160) Source: https://orviva.ai/learn/snps/rs3816605 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.032). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs3818717 (RAI1) Source: https://orviva.ai/learn/snps/rs3818717 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-hip index (β=0.025). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.062). [GWAS Catalog] References: PMID:39379762; GWAS Catalog; GCST90444202 ## rs3819405 (ATXN1) Source: https://orviva.ai/learn/snps/rs3819405 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.005). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Breast cancer (OR=1.04). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs3820277 (IGSF21) Source: https://orviva.ai/learn/snps/rs3820277 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs3820897 (COLEC11) Source: https://orviva.ai/learn/snps/rs3820897 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.062). [GWAS Catalog] - **CC** (typical): C allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501219 ## rs3822072 (FAM13A) Source: https://orviva.ai/learn/snps/rs3822072 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Cholesterol to Total Lipids in Medium HDL percentage (β=0.020). [GWAS Catalog] - **GG** (increased): G allele associated with increased Gluteofemoral adipose tissue volumes (adjusted for BMI and height) (β=0.048). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501183 ## rs3822855 (FRK) Source: https://orviva.ai/learn/snps/rs3822855 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (typical): T allele associated with increased Polyunsaturated fatty acid levels (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased LDL cholesterol levels (β=0.018). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010245 ## rs3823624 (MAD1L1) Source: https://orviva.ai/learn/snps/rs3823624 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with marginally increased risk of Depression (OR=1.03). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sleep duration (β=0.019). [GWAS Catalog] References: PMID:30718901; GWAS Catalog; GCST007342 ## rs3824359 (QSOX2) Source: https://orviva.ai/learn/snps/rs3824359 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Urate levels (β=0.019). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist circumference adjusted for body mass index (β=0.031). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012226 ## rs3827760 (EDAR) Source: https://orviva.ai/learn/snps/rs3827760 (curated, human-reviewed; category: Ancestry; effect allele C) - **CC** (typical / lower): EDAR V370A variant. Associated with thicker hair, more sweat glands, shovel-shaped incisors. Nearly fixed in East Asian and Native American populations. - **TC / CT** (typical / lower): One copy of EDAR East Asian variant. Intermediate phenotype. - **TT** (typical / lower): Ancestral EDAR variant. Common in European and African populations. References: PMID:18065779; 1000 Genomes ## rs3829241 (TPCN2) Source: https://orviva.ai/learn/snps/rs3829241 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (slightly elevated): A allele associated with slightly increased risk of Blond vs. brown/black hair color (OR=1.27). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.031). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs3829849 (LMX1B) Source: https://orviva.ai/learn/snps/rs3829849 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Glaucoma (primary open-angle) (β=0.078). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.013). [GWAS Catalog] References: PMID:39375568; GWAS Catalog; GCST90446645 ## rs384116 (MIR4752 - LILRA5) Source: https://orviva.ai/learn/snps/rs384116 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Total cholesterol levels in HDL (β=0.036). [GWAS Catalog] - **GG** (typical): G allele associated with increased Linoleic acid to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90301971 ## rs3843540 (ZKSCAN5) Source: https://orviva.ai/learn/snps/rs3843540 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Omega-6 fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Hand grip strength (β=0.002). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501225 ## rs3848132 (RPL32P30 - AP4E1) Source: https://orviva.ai/learn/snps/rs3848132 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased magnesium (Mg, mean, inv-norm transformed) (β=0.045). [GWAS Catalog] - **AA** (typical): A allele associated with increased Urate levels (β=0.012). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475480 ## rs3851294 (DSTYK) Source: https://orviva.ai/learn/snps/rs3851294 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.049). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.025). [GWAS Catalog] References: PMID:30575882; GWAS Catalog; GCST008733 ## rs3863241 (KCNB2 - TERF1) Source: https://orviva.ai/learn/snps/rs3863241 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Educational attainment (β=0.009). [GWAS Catalog] - **CC** (typical / lower): C allele associated with slightly decreased risk of Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding me... (OR=0.97). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs3892097 (CYP2D6) Source: https://orviva.ai/learn/snps/rs3892097 (curated, human-reviewed; category: Drug response; effect allele A) - **AA** (reduced): CYP2D6*4 homozygous poor metabolizer. Codeine ineffective (cannot convert to morphine). Affects tamoxifen, SSRIs, and many other drugs. - **GA / AG** (reduced): CYP2D6*4 intermediate metabolizer. Reduced codeine efficacy. - **GG** (typical): Normal CYP2D6 function. References: CPIC; PMID:22205192; PharmGKB ## rs3897645 (RNU6-567P - LINC03111) Source: https://orviva.ai/learn/snps/rs3897645 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.041). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (standard GWA) (β=0.097). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs3903399 (CNTN2) Source: https://orviva.ai/learn/snps/rs3903399 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-hip ratio (β=0.015). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglyceride to HDL cholesterol ratio (β=0.024). [GWAS Catalog] References: PMID:38200128; GWAS Catalog; GCST90295949 ## rs3904600 (RREB1) Source: https://orviva.ai/learn/snps/rs3904600 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.033). [GWAS Catalog] - **CC** (typical): C allele associated with increased Urate levels (β=0.057). [GWAS Catalog] References: PMID:31578528; GWAS Catalog; GCST008972 ## rs3909281 (RN7SKP60 - RPL21P59) Source: https://orviva.ai/learn/snps/rs3909281 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.021). [GWAS Catalog] - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs3918290 (DPYD) Source: https://orviva.ai/learn/snps/rs3918290 (curated, human-reviewed; category: Drug response; effect allele A) - **AA** (increased): DPYD*2A homozygous. Complete DPD deficiency; 5-FU/capecitabine contraindicated due to severe/fatal toxicity risk. - **GA / AG** (increased): DPYD*2A carrier. Partial DPD deficiency; significant dose reduction required for fluoropyrimidines. - **GG** (typical): Normal DPD activity. Standard fluoropyrimidine metabolism. References: CPIC; PMID:23988873; PharmGKB ## rs3918298 (CCND1) Source: https://orviva.ai/learn/snps/rs3918298 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Type 2 diabetes (OR=0.10). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hip index (β=0.056). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020026 ## rs3925584 (MPPED2-AS1 - DCDC1) Source: https://orviva.ai/learn/snps/rs3925584 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.048). [GWAS Catalog] - **TT** (typical): T allele associated with increased magnesium (Mg, mean, inv-norm transformed) (β=0.071). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475480 ## rs39328 (RELN) Source: https://orviva.ai/learn/snps/rs39328 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.016). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.028). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs393488 (BNC2 - RN7SL720P) Source: https://orviva.ai/learn/snps/rs393488 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (increased): A allele associated with increased Insomnia (β=0.006). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Help-seeking from a GP (OR=1.03). [GWAS Catalog] References: PMID:32231276; GWAS Catalog; GCST010011 ## rs3935190 (AATK, BAIAP2) Source: https://orviva.ai/learn/snps/rs3935190 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs3936511 (C5orf67) Source: https://orviva.ai/learn/snps/rs3936511 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.046). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.039). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454484 ## rs3943093 (SDCCAG8) Source: https://orviva.ai/learn/snps/rs3943093 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Diastolic blood pressure (MTAG) (β=0.023). [GWAS Catalog] - **CC** (increased): C allele associated with increased Noncognitive aspects of educational attainment (β=0.042). [GWAS Catalog] References: PMID:39537608; GWAS Catalog; GCST90449057 ## rs3949781 (SEMA4D - GADD45G) Source: https://orviva.ai/learn/snps/rs3949781 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (β=0.016). [GWAS Catalog] - **TT** (typical): T allele associated with increased Metabolic syndrome (β=0.038). [GWAS Catalog] References: PMID:38538606; GWAS Catalog; GCST90428119 ## rs3957165 (MLN - LINC01016) Source: https://orviva.ai/learn/snps/rs3957165 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Educational attainment (MTAG) (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs3967200 (ST3GAL4) Source: https://orviva.ai/learn/snps/rs3967200 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.012). [GWAS Catalog] - **CC** (typical): C allele associated with increased Free cholesterol levels in small LDL (β=0.049). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs3971300 (WNT4 - MIR4418) Source: https://orviva.ai/learn/snps/rs3971300 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Skull bone mineral density (OR=0.10). [GWAS Catalog] - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.019). [GWAS Catalog] References: PMID:37402774; GWAS Catalog; GCST90310280 ## rs398465 (RNA5SP431 - MAF) Source: https://orviva.ai/learn/snps/rs398465 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Putamen iron levels (quantitative susceptibility mapping) (β=0.081). [GWAS Catalog] - **CC** (increased): C allele associated with increased IDP SWI T2star right putamen (β=0.067). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551869 ## rs4000713 (MIR148A - NFE2L3) Source: https://orviva.ai/learn/snps/rs4000713 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Triglycerides to Total Lipids in Chylomicrons and Extremely Large VLDL percen... (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased Ratio of omega-6 fatty acids to omega-3 fatty acids (β=0.030). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501341 ## rs4014195 (KRT8P26 - AP5B1) Source: https://orviva.ai/learn/snps/rs4014195 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.033). [GWAS Catalog] - **CC** (typical): C allele associated with increased Urate levels (β=0.051). [GWAS Catalog] References: PMID:31578528; GWAS Catalog; GCST008972 ## rs4026608 (HMGA2 - MIR6074) Source: https://orviva.ai/learn/snps/rs4026608 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.019). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of PR interval (OR=0.38). [GWAS Catalog] References: PMID:32439900; GWAS Catalog; GCST010321 ## rs40270 (C5orf67) Source: https://orviva.ai/learn/snps/rs40270 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.016). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglyceride levels (UKB data field 30870) (β=0.033). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468106 ## rs4072037 (MUC1) Source: https://orviva.ai/learn/snps/rs4072037 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Magnesium levels (β=0.010). [GWAS Catalog] - **TT** (typical): T allele associated with increased Serum uric acid levels (β=0.048). [GWAS Catalog] References: PMID:20700443; GWAS Catalog; GCST000756 ## rs4072980 (SF3A3) Source: https://orviva.ai/learn/snps/rs4072980 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.019). [GWAS Catalog] - **AA** (typical): A allele associated with increased Coronary artery disease (β=0.033). [GWAS Catalog] References: PMID:29212778; GWAS Catalog; GCST005195 ## rs4075018 (LINC01940 - HDAC4) Source: https://orviva.ai/learn/snps/rs4075018 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Male-pattern baldness (β=0.039). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.014). [GWAS Catalog] References: PMID:30573740; GWAS Catalog; GCST007020 ## rs410851 (SKIC2) Source: https://orviva.ai/learn/snps/rs410851 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Diastolic blood pressure (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.021). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018952 ## rs4122352 (RRN3, PDXDC1) Source: https://orviva.ai/learn/snps/rs4122352 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased triglyceride (mean, inv-norm transformed) (β=0.048). [GWAS Catalog] - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.011). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012106 ## rs41264285 (ADAM15) Source: https://orviva.ai/learn/snps/rs41264285 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.008). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs41278174 (ABCC6) Source: https://orviva.ai/learn/snps/rs41278174 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Calculus of kidney (PheCode 594.1) (OR=0.23). [GWAS Catalog] - **AA** (typical): A allele associated with increased Calcium levels (β=0.050). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476145 ## rs41279738 (GPR61) Source: https://orviva.ai/learn/snps/rs41279738 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Body mass index (β=0.088). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Gallstone disease (OR=1.13). [GWAS Catalog] References: PMID:34651315; GWAS Catalog; GCST90128518 ## rs41280463 (TRIM2) Source: https://orviva.ai/learn/snps/rs41280463 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Total cholesterol levels (β=0.020). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.010). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239676 ## rs41281265 (TNRC6B) Source: https://orviva.ai/learn/snps/rs41281265 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.027). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Gallstone disease (OR=1.06). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479521 ## rs4128399 (PRKAG2) Source: https://orviva.ai/learn/snps/rs4128399 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased aseg global intensity 4th-Ventricle (β=0.082). [GWAS Catalog] - **TT** (typical): T allele associated with increased Primary open angle glaucoma (MTAG) (β=0.068). [GWAS Catalog] References: PMID:37386247; GWAS Catalog; GCST90310210 ## rs41284816 (DLEU1, DLEU2) Source: https://orviva.ai/learn/snps/rs41284816 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (typical / lower): G allele associated with decreased risk of What is your height? (cm, inv-normal transformed) (OR=0.30). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglyceride levels (UKB data field 30870) (β=0.055). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468106 ## rs41305070 (GOLPH3L) Source: https://orviva.ai/learn/snps/rs41305070 (imported from public databases, not individually reviewed; category: Drug response; effect allele G) - **AA** (typical): A allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.036). [GWAS Catalog] - **GG** (typical): G allele associated with increased CST7 protein levels (β=0.033). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468897 ## rs4132228 (ADAMTS9-AS2) Source: https://orviva.ai/learn/snps/rs4132228 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.047). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (MTAG) (β=0.010). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs4135240 (CDKN1A) Source: https://orviva.ai/learn/snps/rs4135240 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Heart failure (OR=1.05). [GWAS Catalog] References: PMID:31919418; GWAS Catalog; GCST009541 ## rs41412647 (KLHL5P1 - GSTT2B) Source: https://orviva.ai/learn/snps/rs41412647 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Free Cholesterol to Total Lipids in Large LDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501151 ## rs4142110 (DGKH) Source: https://orviva.ai/learn/snps/rs4142110 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.013). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Kidney stone disease (OR=0.88). [GWAS Catalog] References: PMID:40216741; GWAS Catalog; GCST90652507 ## rs4147929 (ABCA7) Source: https://orviva.ai/learn/snps/rs4147929 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Plasma lactosyl-N-nervonoyl-sphingosine (d18:1/24:1)* levels in chronic kidne... (OR=0.21). [GWAS Catalog] - **AA** (high): A allele associated with substantially increased risk of Alzheimer's disease or educational attainment (pleiotropy) (OR=40.68). [GWAS Catalog] References: PMID:34743297; GWAS Catalog; GCST90095190 ## rs4148155 (ABCG2) Source: https://orviva.ai/learn/snps/rs4148155 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Serum urate levels (OR=0.14). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Hyperuricemia in low folate intake (OR=1.49). [GWAS Catalog] References: PMID:40835619; GWAS Catalog; GCST90693181 ## rs4148323 (UGT1A1) Source: https://orviva.ai/learn/snps/rs4148323 (imported from public databases, not individually reviewed; category: Drug response) - **AA** (elevated): Homozygous risk allele (A). Associated with: BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; phenotype not specified; CRIGLER-NAJJAR SYNDROME, TYPE II - **GG** (typical): Normal UGT1A1 function at this position. Standard irinotecan dosing. - **GA** (increased): UGT1A1 *6 carrier. Decreased glucuronidation. Increased risk of irinotecan toxicity, especially in East Asian populations. References: PharmGKB:3; Drug:indinavir; Type:Toxicity ## rs4149056 (SLCO1B1) Source: https://orviva.ai/learn/snps/rs4149056 (curated, human-reviewed; category: Drug response; effect allele C) - **CC** (increased): SLCO1B1*5 homozygous. High risk of simvastatin-induced myopathy. Consider alternative statin or lower dose. - **TC / CT** (increased): SLCO1B1*5 carrier. Increased risk of statin side effects. - **TT** (typical): Normal SLCO1B1 function. Standard statin tolerance. References: CPIC; PMID:35152405; PharmGKB ## rs4149307 (ABCA1) Source: https://orviva.ai/learn/snps/rs4149307 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (OR=0.10). [GWAS Catalog] - **TT** (typical): T allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501219 ## rs41523449 (HPN, HPN-AS1) Source: https://orviva.ai/learn/snps/rs41523449 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Calcium (mean, inv-norm transformed) (β=0.050). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (MTAG) (β=0.023). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479530 ## rs42039 (CDK6) Source: https://orviva.ai/learn/snps/rs42039 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.061). [GWAS Catalog] - **CC** (typical): C allele associated with increased diastolic blood pressure (DBP, mean, inv-normal transformed) (β=0.023). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479581 ## rs42235 (CDK6) Source: https://orviva.ai/learn/snps/rs42235 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.057). [GWAS Catalog] - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.021). [GWAS Catalog] References: PMID:20881960; GWAS Catalog; GCST000817 ## rs4233789 (LINC01934) Source: https://orviva.ai/learn/snps/rs4233789 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.012). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking cessation (MTAG) (β=0.010). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs4234589 (ETV5) Source: https://orviva.ai/learn/snps/rs4234589 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.037). [GWAS Catalog] - **GG** (typical): G allele associated with increased Phospholipids in large HDL (β=0.030). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501142 ## rs4238595 (UMOD) Source: https://orviva.ai/learn/snps/rs4238595 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Type 1 diabetes (OR=0.11). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.005). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs4240791 (C16orf95) Source: https://orviva.ai/learn/snps/rs4240791 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Amygdala iron levels (quantitative susceptibility mapping) (β=0.053). [GWAS Catalog] - **AA** (increased): A allele associated with increased IDP dMRI TBSS ISOVF Superior longitudinal fasciculus R (β=0.073). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90004517 ## rs4244285 (CYP2C19) Source: https://orviva.ai/learn/snps/rs4244285 (curated, human-reviewed; category: Drug response; effect allele A) - **AA** (reduced): CYP2C19*2 homozygous poor metabolizer. Clopidogrel may be ineffective; consider alternative antiplatelet. - **GA / AG** (reduced): CYP2C19*2 intermediate metabolizer. Reduced clopidogrel activation. - **GG** (typical): Normal CYP2C19 function. Standard clopidogrel response. References: CPIC; PMID:21716271; PharmGKB ## rs4245597 (ARID5B) Source: https://orviva.ai/learn/snps/rs4245597 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with increased Uric acid levels (β=0.019). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662871 ## rs4252185 (PLG) Source: https://orviva.ai/learn/snps/rs4252185 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **CC** (slightly elevated): C allele associated with slightly increased risk of Coronary artery disease (OR=1.34). [GWAS Catalog] - **TT** (reduced): T allele associated with decreased risk of Angiostatin levels (OR=0.15). [GWAS Catalog] References: PMID:34648354; GWAS Catalog; GCST90246505 ## rs4268748 (DEF8) Source: https://orviva.ai/learn/snps/rs4268748 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (slightly elevated): C allele associated with slightly increased risk of Squamous cell carcinoma (OR=1.33). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Skin aging (microtopography measurement) (OR=0.13). [GWAS Catalog] References: PMID:26829030; GWAS Catalog; GCST003327 ## rs4272 (CDK6) Source: https://orviva.ai/learn/snps/rs4272 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased systolic blood pressure (SBP, maximum, inv-normal transformed) (β=0.030). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.031). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476400 ## rs4275621 (METTL15 - LINC02758) Source: https://orviva.ai/learn/snps/rs4275621 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.009). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Attention deficit hyperactivity disorder (OR=1.08). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs4285804 (SUFU) Source: https://orviva.ai/learn/snps/rs4285804 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (increased): T allele associated with increased Waist circumference adjusted for body mass index (β=0.025). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.18). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132904 ## rs429358 (APOE) Source: https://orviva.ai/learn/snps/rs429358 (curated, human-reviewed; category: Health risk; effect allele C) - **CC** (high): APOE e4/e4 homozygous. Substantially elevated risk for late-onset Alzheimer's disease (up to 12x). - **TC / CT** (elevated): APOE e3/e4 heterozygous. Moderately elevated Alzheimer's risk (3-4x). - **TT** (typical / lower): APOE e3/e3. Typical Alzheimer's risk. References: PMID:8346443; ClinVar; OMIM:107741 ## rs4295 (ACE) Source: https://orviva.ai/learn/snps/rs4295 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Dementia (β=0.078). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.010). [GWAS Catalog] References: PMID:39046104; GWAS Catalog; GCST90449024 ## rs4299376 (ABCG8) Source: https://orviva.ai/learn/snps/rs4299376 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.065). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-6 fatty acid levels (β=0.036). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239676 ## rs4308481 (PRDM6 - CEP120) Source: https://orviva.ai/learn/snps/rs4308481 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.22). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.033). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475153 ## rs4325816 (SP3) Source: https://orviva.ai/learn/snps/rs4325816 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.016). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Multiple myeloma (OR=1.12). [GWAS Catalog] References: PMID:30213928; GWAS Catalog; GCST006432 ## rs4335411 (ZNF692-DT - PGBD2) Source: https://orviva.ai/learn/snps/rs4335411 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased systolic blood pressure (SBP, mean, inv-normal transformed) (β=0.042). [GWAS Catalog] - **AA** (typical): A allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.015). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476403 ## rs434215 (TPPP - ZDHHC11B) Source: https://orviva.ai/learn/snps/rs434215 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.029). [GWAS Catalog] - **AA** (typical): A allele associated with increased Renal failure (PheCode 585) (β=0.054). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480380 ## rs4382480 (MFHAS1) Source: https://orviva.ai/learn/snps/rs4382480 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Systolic blood pressure (MTAG) (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with increased Thalamus iron levels (R2* MRI) (β=0.036). [GWAS Catalog] References: PMID:39537608; GWAS Catalog; GCST90449056 ## rs4395467 (DMP1-AS1) Source: https://orviva.ai/learn/snps/rs4395467 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Standing height (UKB data field 50) (β=0.013). [GWAS Catalog] - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.022). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs4399570 (CALM2P1 - CASC17) Source: https://orviva.ai/learn/snps/rs4399570 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.027). [GWAS Catalog] - **GG** (typical): G allele associated with increased QT interval (β=0.048). [GWAS Catalog] References: PMID:34274964; GWAS Catalog; GCST90026652 ## rs440446 (APOE) Source: https://orviva.ai/learn/snps/rs440446 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (elevated): G allele associated with moderately increased risk of Alzheimer's disease (onset between ages 58 and 79) (OR=1.64). [GWAS Catalog] - **CC** (increased): C allele associated with increased Symbol digit substitution test performance (baseline) (β=0.020). [GWAS Catalog] References: PMID:30979435; GWAS Catalog; GCST009496 ## rs4406409 (LPL - RPL30P9) Source: https://orviva.ai/learn/snps/rs4406409 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Metabolic syndrome (OR=0.16). [GWAS Catalog] - **CC** (typical): C allele associated with increased Saturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:38201907; GWAS Catalog; GCST90454454 ## rs4409766 (BORCS7, BORCS7-ASMT) Source: https://orviva.ai/learn/snps/rs4409766 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (slightly elevated): T allele associated with slightly increased risk of Systolic blood pressure (OR=1.24). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.026). [GWAS Catalog] References: PMID:28892062; GWAS Catalog; GCST004904 ## rs4414033 (MIR9-1HG) Source: https://orviva.ai/learn/snps/rs4414033 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.013). [GWAS Catalog] - **GG** (typical): G allele associated with increased End-diastolic bi-ventricular shape (principal component 4) (β=0.036). [GWAS Catalog] References: PMID:39543113; GWAS Catalog; GCST90448483 ## rs4420638 (APOC1) Source: https://orviva.ai/learn/snps/rs4420638 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of LDL cholesterol (OR=0.23). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total fatty acid levels (β=0.068). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092987 ## rs4428180 (TF) Source: https://orviva.ai/learn/snps/rs4428180 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Putamen iron levels (R2* MRI) (OR=0.19). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of IDP SWI T2star left putamen (OR=0.20). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90003867 ## rs4441044 (LTO1 - FGF19) Source: https://orviva.ai/learn/snps/rs4441044 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.028). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum urate levels (β=0.019). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479521 ## rs4442348 (RNA5SP63 - U3) Source: https://orviva.ai/learn/snps/rs4442348 (imported from public databases, not individually reviewed; category: Drug response; effect allele G) - **AA** (typical): A allele associated with increased Serum urate levels (β=0.022). [GWAS Catalog] - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.003). [GWAS Catalog] References: PMID:34272381; GWAS Catalog; GCST90103635 ## rs4448948 (LINC01572) Source: https://orviva.ai/learn/snps/rs4448948 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.022). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.024). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs4459609 (CYB561 - PPIAP55) Source: https://orviva.ai/learn/snps/rs4459609 (imported from public databases, not individually reviewed; category: Drug response; effect allele C) - **AA** (typical): A allele associated with increased Hypertension (β=0.047). [GWAS Catalog] - **CC** (reduced): C allele associated with decreased risk of Cystatin-8 levels (OR=0.18). [GWAS Catalog] References: PMID:39528825; GWAS Catalog; GCST90421160 ## rs4462678 (DCC) Source: https://orviva.ai/learn/snps/rs4462678 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Fluid intelligence score (baseline) (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Attention deficit hyperactivity disorder (β=0.017). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565842 ## rs4470366 (ZNF638) Source: https://orviva.ai/learn/snps/rs4470366 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.012). [GWAS Catalog] - **AA** (increased): A allele associated with increased Cognitive performance (β=0.018). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs4474693 (GPR139 - SNRPEP3) Source: https://orviva.ai/learn/snps/rs4474693 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.046). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Knee osteoarthritis (OR=1.04). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566800 ## rs4477405 (LINC02751 - LINC02682) Source: https://orviva.ai/learn/snps/rs4477405 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.006). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs4479577 (RN7SL553P - MTARC2P1) Source: https://orviva.ai/learn/snps/rs4479577 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.014). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:30679032; GWAS Catalog; GCST008810 ## rs4481887 (OR2M7) Source: https://orviva.ai/learn/snps/rs4481887 (curated, human-reviewed; category: Trait; effect allele A) - **AA** (typical / lower): Likely unable to smell asparagus metabolites in urine. - **AG / GA** (typical / lower): May have reduced ability to smell asparagus metabolites. - **GG** (typical / lower): Can likely smell asparagus metabolites in urine. References: PMID:21076407 ## rs4482463 (DSTNP5 - PARD3B) Source: https://orviva.ai/learn/snps/rs4482463 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.029). [GWAS Catalog] - **AA** (typical): A allele associated with increased Phospholipids to Total Lipids in Medium HDL percentage (β=0.020). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs4489042 (LINC02058 - POLD2P1) Source: https://orviva.ai/learn/snps/rs4489042 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Drinks per week (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Depression (β=0.018). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243984 ## rs451637 (C4B) Source: https://orviva.ai/learn/snps/rs451637 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.030). [GWAS Catalog] - **TT** (typical): T allele associated with increased LDLR protein levels (β=0.054). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs4517468 (BDNF, BDNF-AS) Source: https://orviva.ai/learn/snps/rs4517468 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.015). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking initiation (β=0.017). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243966 ## rs45527431 (ABT1) Source: https://orviva.ai/learn/snps/rs45527431 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Cognitive aspects of educational attainment (OR=0.11). [GWAS Catalog] - **GG** (typical): G allele associated with increased Depression (broad) (β=0.011). [GWAS Catalog] References: PMID:33414549; GWAS Catalog; GCST90011875 ## rs45565536 (HM13) Source: https://orviva.ai/learn/snps/rs45565536 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Cystatin C levels (β=0.050). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.030). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs45573936 (SLC29A1) Source: https://orviva.ai/learn/snps/rs45573936 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.36). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.014). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs45574931 (TAGLN, PCSK7) Source: https://orviva.ai/learn/snps/rs45574931 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.046). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.022). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs45611741 (APOA5) Source: https://orviva.ai/learn/snps/rs45611741 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Triglyceride levels (UKB data field 30870) (OR=0.40). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Ratio of monounsaturated fatty acids to total fatty acids (OR=0.37). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092929 ## rs4564341 (FADS1, FADS2) Source: https://orviva.ai/learn/snps/rs4564341 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **AA** (typical): A allele associated with increased Triacylglycerol(56:6)_[M+NH4]1+ levels (β=0.040). [GWAS Catalog] - **TT** (typical): T allele associated with increased Fatty acid(22:4)_[M-H]1- levels (β=0.093). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060585 ## rs4575545 (MAFTRR, LINC01229) Source: https://orviva.ai/learn/snps/rs4575545 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Serum urate levels (β=0.038). [GWAS Catalog] - **GG** (typical): G allele associated with increased Serum 25-Hydroxyvitamin D levels (conditioned on BMI) (β=0.016). [GWAS Catalog] References: PMID:32242144; GWAS Catalog; GCST90000616 ## rs4577128 (PRKCA) Source: https://orviva.ai/learn/snps/rs4577128 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (slightly elevated): C allele associated with slightly increased risk of Hypertrophic cardiomyopathy (OR=1.23). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.014). [GWAS Catalog] References: PMID:39966646; GWAS Catalog; GCST90435254 ## rs4616635 (ADAMTS9-AS2) Source: https://orviva.ai/learn/snps/rs4616635 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.031). [GWAS Catalog] - **GG** (typical): G allele associated with increased Concentration of very large HDL particles (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501301 ## rs4619890 (AFAP1) Source: https://orviva.ai/learn/snps/rs4619890 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.014). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Glaucoma (primary open-angle) (OR=1.20). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs4621706 (POU6F2) Source: https://orviva.ai/learn/snps/rs4621706 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (increased): C allele associated with increased Hand grip strength (baseline) (β=0.011). [GWAS Catalog] - **TT** (typical): T allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs4630591 (KANSL1) Source: https://orviva.ai/learn/snps/rs4630591 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Parkinson's disease (OR=0.25). [GWAS Catalog] - **CC** (increased): C allele associated with increased Number of puzzles correctly solved (baseline) (β=0.030). [GWAS Catalog] References: PMID:39080267; GWAS Catalog; GCST90455618 ## rs463245 (KCTD16 - RN7SKP246) Source: https://orviva.ai/learn/snps/rs463245 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Insomnia (β=0.006). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Migraine or type 2 diabetes (OR=1.02). [GWAS Catalog] References: PMID:36292730; GWAS Catalog; GCST90244660 ## rs4639796 (ZBTB41) Source: https://orviva.ai/learn/snps/rs4639796 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.012). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Systolic blood pressure (OR=0.20). [GWAS Catalog] References: PMID:33230300; GWAS Catalog; GCST90292477 ## rs4644350 (BNC2 - RN7SL720P) Source: https://orviva.ai/learn/snps/rs4644350 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Non-HDL cholesterol levels (β=0.017). [GWAS Catalog] - **CC** (increased): C allele associated with increased Skin color (β=0.097). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239670 ## rs4646359 (PEMT) Source: https://orviva.ai/learn/snps/rs4646359 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased triglyceride (mean, inv-norm transformed) (β=0.025). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.019). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245846 ## rs4653164 (MAP7D1) Source: https://orviva.ai/learn/snps/rs4653164 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.011). [GWAS Catalog] - **CC** (typical / lower): C allele associated with slightly decreased risk of Schizophrenia (OR=0.96). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs4653767 (ITPKB) Source: https://orviva.ai/learn/snps/rs4653767 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Parkinson's disease or first degree relation to individual with Parkinson's d... (β=0.083). [GWAS Catalog] - **CC** (typical): C allele associated with increased Calcium levels (β=0.017). [GWAS Catalog] References: PMID:31701892; GWAS Catalog; GCST009325 ## rs465423 (PLIN2 - DENND4C) Source: https://orviva.ai/learn/snps/rs465423 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Putamen iron levels (quantitative susceptibility mapping) (OR=0.15). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of IDP SWI T2star right putamen (OR=0.14). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551869 ## rs4658046 (CFH) Source: https://orviva.ai/learn/snps/rs4658046 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (slightly elevated): C allele associated with slightly increased risk of Early age-related macular degeneration (OR=1.38). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of S-methylmethionine--homocysteine S-methyltransferase BHMT2 levels (OR=0.25). [GWAS Catalog] References: PMID:34648354; GWAS Catalog; GCST90246697 ## rs4663105 (BIN1 - NIFKP9) Source: https://orviva.ai/learn/snps/rs4663105 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (high): C allele associated with substantially increased risk of Alzheimer's disease or family history of Alzheimer's disease (OR=13.94). [GWAS Catalog] - **AA** (increased): A allele associated with increased Alzheimer's disease or educational attainment (pleiotropy) (β=119.864). [GWAS Catalog] References: PMID:30617256; GWAS Catalog; GCST007320 ## rs4663983 (MSL3B - TRPM8) Source: https://orviva.ai/learn/snps/rs4663983 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Medication use (antimigraine preparations) (OR=0.19). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.006). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs4664446 (DPP4) Source: https://orviva.ai/learn/snps/rs4664446 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Intelligence (MTAG) (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Asthma or chronic rhinosinusitis (OR=1.03). [GWAS Catalog] References: PMID:29326435; GWAS Catalog; GCST005316 ## rs4671328 (LINC01122) Source: https://orviva.ai/learn/snps/rs4671328 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.022). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.012). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs4672 (FKBP2) Source: https://orviva.ai/learn/snps/rs4672 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with slightly decreased risk of Bipolar disorder (OR=0.90). [GWAS Catalog] - **AA** (increased): A allele associated with increased Cognitive performance (MTAG) (β=0.024). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006570 ## rs4673553 (CPS1 - RPS27P10) Source: https://orviva.ai/learn/snps/rs4673553 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (β=0.012). [GWAS Catalog] - **TT** (typical): T allele associated with increased 25-hydroxyvitamin D levels (skin colour stratified) (β=0.013). [GWAS Catalog] References: PMID:37963177; GWAS Catalog; GCST90448682 ## rs4674 (BCKDHA) Source: https://orviva.ai/learn/snps/rs4674 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 level in Chroni... (OR=0.72). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.021). [GWAS Catalog] References: PMID:35870639; GWAS Catalog; GCST90239297 ## rs4675682 (CREB1) Source: https://orviva.ai/learn/snps/rs4675682 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Systolic blood pressure (MTAG) (β=0.016). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.009). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs4676276 (SH3RF3) Source: https://orviva.ai/learn/snps/rs4676276 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.011). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Left-handedness (OR=1.02). [GWAS Catalog] References: PMID:32989287; GWAS Catalog; GCST90013421 ## rs4678428 (PCCB) Source: https://orviva.ai/learn/snps/rs4678428 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Linoleic acid percentage of total fatty acids (β=0.028). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.019). [GWAS Catalog] References: PMID:38538606; GWAS Catalog; GCST90428119 ## rs4680 (COMT) Source: https://orviva.ai/learn/snps/rs4680 (curated, human-reviewed; category: Trait; effect allele A) - **AA** (typical / lower): COMT Val158Met Met/Met. Lower COMT activity; higher dopamine levels. Associated with increased pain sensitivity, better memory, but higher stress vulnerability. - **GA / AG** (typical / lower): COMT Val/Met heterozygous. Intermediate dopamine metabolism. - **GG** (typical / lower): COMT Val/Val. Higher COMT activity; lower dopamine. Better stress resilience but may have lower pain threshold. References: PMID:14654002; OMIM:116790 ## rs4683438 (HLMR1) Source: https://orviva.ai/learn/snps/rs4683438 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.013). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triglycerides (β=0.018). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs4684859 (PPARG - TSEN2) Source: https://orviva.ai/learn/snps/rs4684859 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased A body shape index (β=0.024). [GWAS Catalog] - **GG** (typical): G allele associated with increased triglyceride (mean, inv-norm transformed) (β=0.024). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020024 ## rs4685235 (FGD5, FGD5-AS1) Source: https://orviva.ai/learn/snps/rs4685235 (imported from public databases, not individually reviewed; category: Drug response; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.018). [GWAS Catalog] - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.024). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428446 ## rs4688686 (SEMA3F-AS1) Source: https://orviva.ai/learn/snps/rs4688686 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased diastolic blood pressure (DBP, maximum, inv-normal transformed) (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Hip index (β=0.019). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479580 ## rs4688760 (RBM6) Source: https://orviva.ai/learn/snps/rs4688760 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with marginally increased risk of Insomnia symptoms (never/rarely vs. usually) (OR=1.03). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.034). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs4690029 (FAM193A) Source: https://orviva.ai/learn/snps/rs4690029 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with slightly decreased risk of Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated pept... (OR=0.93). [GWAS Catalog] - **TT** (high): T allele associated with substantially increased risk of General cognitive ability (OR=6.07). [GWAS Catalog] References: PMID:36333501; GWAS Catalog; GCST90132225 ## rs4704210 (HMGCR) Source: https://orviva.ai/learn/snps/rs4704210 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **CC** (typical): C allele associated with increased Cholesteryl esters in very small VLDL (UKB data field 23520) (β=0.057). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total omega-6 fatty acid levels (β=0.047). [GWAS Catalog] References: PMID:35692035; GWAS Catalog; GCST90133364 ## rs4704397 (PDE8B, PDE8B) Source: https://orviva.ai/learn/snps/rs4704397 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.007). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Thyroid stimulating hormone levels (OR=0.25). [GWAS Catalog] References: PMID:18514160; GWAS Catalog; GCST000199 ## rs4705928 (P4HA2) Source: https://orviva.ai/learn/snps/rs4705928 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased height (mean, inv-normal transformed) (β=0.049). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Basal cell carcinoma (OR=1.04). [GWAS Catalog] References: PMID:38182794; GWAS Catalog; GCST90328134 ## rs4709714 (CAHM) Source: https://orviva.ai/learn/snps/rs4709714 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.008). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Osteoarthritis (with total hip replacement) (OR=0.94). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566802 ## rs4714001 (RNU1-88P - Y_RNA) Source: https://orviva.ai/learn/snps/rs4714001 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Heart failure (β=0.053). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.006). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs471470 (PICALM - RNU6-560P) Source: https://orviva.ai/learn/snps/rs471470 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Putamen iron levels (quantitative susceptibility mapping) (β=0.043). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Alzheimer's disease in APOE e4+ carriers (OR=1.16). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551869 ## rs4715491 (FAM83B) Source: https://orviva.ai/learn/snps/rs4715491 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Morning person (OR=1.03). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum urate levels (β=0.026). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319905 ## rs4720837 (MAFK) Source: https://orviva.ai/learn/snps/rs4720837 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Caudate iron levels (R2* MRI) (β=0.056). [GWAS Catalog] - **AA** (increased): A allele associated with increased Standing height (UKB data field 50) (β=0.008). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs4721089 (MAD1L1) Source: https://orviva.ai/learn/snps/rs4721089 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (UKB data field 21001) (β=0.017). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.034). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs4731701 (KLF14 - LINC-PINT) Source: https://orviva.ai/learn/snps/rs4731701 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Triglyceride levels (β=0.033). [GWAS Catalog] - **TT** (typical): T allele associated with increased Omega-6 fatty acids to total fatty acids percentage (β=0.030). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501225 ## rs4735761 (HIGD1AP18 - PKIA-AS1) Source: https://orviva.ai/learn/snps/rs4735761 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (baseline) (β=0.027). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Atrial fibrillation (OR=1.03). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs4737188 (LINC01414) Source: https://orviva.ai/learn/snps/rs4737188 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased HDL cholesterol (β=0.014). [GWAS Catalog] - **AA** (increased): A allele associated with increased Adult body size (β=0.008). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018956 ## rs4738141 (EYA1) Source: https://orviva.ai/learn/snps/rs4738141 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.028). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglycerides (β=0.015). [GWAS Catalog] References: PMID:30575882; GWAS Catalog; GCST008733 ## rs4739105 (IFITM8P - RN7SKP135) Source: https://orviva.ai/learn/snps/rs4739105 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Drinks per week (β=0.013). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Migraine (OR=1.04). [GWAS Catalog] References: PMID:35115687; GWAS Catalog; GCST90102553 ## rs4739515 (LINC01605) Source: https://orviva.ai/learn/snps/rs4739515 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Type 2 diabetes (OR=1.05). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.012). [GWAS Catalog] References: PMID:32499647; GWAS Catalog; GCST010118 ## rs4741388 (NFIB-AS1 - ZDHHC21) Source: https://orviva.ai/learn/snps/rs4741388 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.015). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs4741961 (GLIS3) Source: https://orviva.ai/learn/snps/rs4741961 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Systolic blood pressure (MTAG) (β=0.013). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (BMI unadjusted) (OR=0.32). [GWAS Catalog] References: PMID:39537608; GWAS Catalog; GCST90449056 ## rs4745 (EFNA1) Source: https://orviva.ai/learn/snps/rs4745 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (typical): A allele associated with increased Electrocardiogram morphology (amplitude at temporal datapoints) (β=0.040). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.009). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs4751995 (PNLIPRP2) Source: https://orviva.ai/learn/snps/rs4751995 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Pancreatic lipase-related protein 2 level in Chronic kidney disease with hype... (OR=1.01). [GWAS Catalog] - **AA** (typical): A allele associated with increased Ratio of 18:2 linoleic acid to total fatty acids (β=0.024). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90301989 ## rs4751996 (PNLIPRP2) Source: https://orviva.ai/learn/snps/rs4751996 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Linoleic acid to total fatty acids percentage (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Low density lipoprotein cholesterol levels (β=0.016). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501171 ## rs4757957 (TEAD1) Source: https://orviva.ai/learn/snps/rs4757957 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Educational attainment (MTAG) (β=0.013). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006571 ## rs4763 (ARHGAP27) Source: https://orviva.ai/learn/snps/rs4763 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Putamen iron levels (R2* MRI) (β=0.070). [GWAS Catalog] - **AA** (typical): A allele associated with increased Breast cancer (β=0.046). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551870 ## rs4767921 (CABP1-DT) Source: https://orviva.ai/learn/snps/rs4767921 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Duration to complete alphanumeric path task (baseline) (β=0.021). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Dyslexia (OR=1.04). [GWAS Catalog] References: PMID:36266505; GWAS Catalog; GCST90244674 ## rs476828 (RNU4-17P - MC4R) Source: https://orviva.ai/learn/snps/rs476828 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased High-density lipoprotein levels (β=0.025). [GWAS Catalog] - **CC** (typical): C allele associated with increased Coffee consumption (cups per day) (β=0.043). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662894 ## rs4768862 (ATF1) Source: https://orviva.ai/learn/snps/rs4768862 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Standing height (UKB data field 50) (β=0.012). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Systolic blood pressure (OR=0.26). [GWAS Catalog] References: PMID:30578418; GWAS Catalog; GCST007267 ## rs4776614 (ADPGK-AS1) Source: https://orviva.ai/learn/snps/rs4776614 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Triglycerides to Total Lipids in IDL percentage (β=0.010). [GWAS Catalog] - **CC** (increased): C allele associated with increased Hand grip strength (β=0.002). [GWAS Catalog] References: PMID:29691431; GWAS Catalog; GCST005830 ## rs4782568 (OSGIN1, MLYCD) Source: https://orviva.ai/learn/snps/rs4782568 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.013). [GWAS Catalog] - **CC** (typical): C allele associated with increased Low density lipoprotein cholesterol levels (β=0.020). [GWAS Catalog] References: PMID:32493714; GWAS Catalog; GCST90002412 ## rs4783722 (CYB5B - NFAT5) Source: https://orviva.ai/learn/snps/rs4783722 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.023). [GWAS Catalog] - **TT** (typical): T allele associated with increased High-density lipoprotein levels (MTAG) (β=0.020). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179147 ## rs4785187 (ZNF423) Source: https://orviva.ai/learn/snps/rs4785187 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs4788084 (IL27 - NUPR1) Source: https://orviva.ai/learn/snps/rs4788084 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (typical): T allele associated with increased Drinks per week (β=0.010). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Type 1 diabetes (OR=1.09). [GWAS Catalog] References: PMID:19430480; GWAS Catalog; GCST000392 ## rs4790841 (RPA1 - RTN4RL1) Source: https://orviva.ai/learn/snps/rs4790841 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Educational attainment (β=0.010). [GWAS Catalog] - **CC** (typical / lower): C allele associated with slightly decreased risk of Bipolar disorder (OR=0.93). [GWAS Catalog] References: PMID:34002096; GWAS Catalog; GCST012465 ## rs4790874 (SMG6, SMG6-AS1) Source: https://orviva.ai/learn/snps/rs4790874 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs4801157 (TCF4) Source: https://orviva.ai/learn/snps/rs4801157 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Depression (β=0.022). [GWAS Catalog] - **TT** (increased): T allele associated with increased Insomnia (β=0.007). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131901 ## rs4803764 (NECTIN2) Source: https://orviva.ai/learn/snps/rs4803764 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (elevated): C allele associated with moderately increased risk of Alzheimer's disease (onset between ages 58 and 79) (OR=1.52). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (MTAG) (β=0.014). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs480400 (SGF29) Source: https://orviva.ai/learn/snps/rs480400 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Plasma furaneol sulfate levels in chronic kidney disease (OR=0.32). [GWAS Catalog] - **AA** (increased): A allele associated with increased Intelligence (MTAG) (β=0.023). [GWAS Catalog] References: PMID:29326435; GWAS Catalog; GCST005316 ## rs4804416 (INSR) Source: https://orviva.ai/learn/snps/rs4804416 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Height (β=0.021). [GWAS Catalog] - **TT** (typical): T allele associated with increased Hypothyroidism NOS (PheCode 244.4) (β=0.092). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475653 ## rs4804524 (DNM2) Source: https://orviva.ai/learn/snps/rs4804524 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.012). [GWAS Catalog] References: PMID:37069358; GWAS Catalog; GCST90244098 ## rs4805881 (PEPD) Source: https://orviva.ai/learn/snps/rs4805881 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased High-density lipoprotein levels (β=0.024). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.009). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662894 ## rs4806073 (HPN-AS1, HPN) Source: https://orviva.ai/learn/snps/rs4806073 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Calcium levels (β=0.073). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.014). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019500 ## rs4806862 (GNG7) Source: https://orviva.ai/learn/snps/rs4806862 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Height (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.020). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs4807125 (TCF3) Source: https://orviva.ai/learn/snps/rs4807125 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.033). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs4810479 (PLTP - PCIF1) Source: https://orviva.ai/learn/snps/rs4810479 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Free Cholesterol to Total Lipids in Medium VLDL percentage (β=0.076). [GWAS Catalog] - **CC** (typical): C allele associated with increased Ratio of linoleic acid to total fatty acids (β=0.039). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092881 ## rs4817505 (EPCIP-AS1) Source: https://orviva.ai/learn/snps/rs4817505 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.007). [GWAS Catalog] - **TT** (typical): T allele associated with increased Caffeine consumption from tea (β=0.015). [GWAS Catalog] References: PMID:33287642; GWAS Catalog; GCST011124 ## rs4818226 (BACE2) Source: https://orviva.ai/learn/snps/rs4818226 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with increased High density lipoprotein cholesterol levels (β=0.011). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs4820091 (UBE2L3) Source: https://orviva.ai/learn/snps/rs4820091 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.011). [GWAS Catalog] - **TT** (typical): T allele associated with increased HDL x depression interaction (2df test) (β=0.000). [GWAS Catalog] References: PMID:40537477; GWAS Catalog; GCST90570697 ## rs4820323 (MAFF, PLA2G6) Source: https://orviva.ai/learn/snps/rs4820323 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **CC** (typical): C allele associated with increased High-density lipoprotein levels (β=0.025). [GWAS Catalog] - **GG** (typical): G allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501219 ## rs4821764 (PLA2G6, MAFF) Source: https://orviva.ai/learn/snps/rs4821764 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Triglycerides (β=0.023). [GWAS Catalog] - **AA** (typical): A allele associated with increased Polyunsaturated fatty acids to monounsaturated fatty acids ratio (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501230 ## rs4823006 (ZNRF3) Source: https://orviva.ai/learn/snps/rs4823006 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Waist-hip ratio (β=0.019). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Systolic blood pressure (OR=0.26). [GWAS Catalog] References: PMID:27618448; GWAS Catalog; GCST006228 ## rs4823074 (HORMAD2) Source: https://orviva.ai/learn/snps/rs4823074 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased Drinks per week (β=0.007). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.012). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243984 ## rs483082 (APOE - APOC1) Source: https://orviva.ai/learn/snps/rs483082 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.086). [GWAS Catalog] - **TT** (typical): T allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.087). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90499094 ## rs4833103 (BNC2) Source: https://orviva.ai/learn/snps/rs4833103 (curated, human-reviewed; category: Ancestry; effect allele T) - **TT** (typical / lower): BNC2 variant. Associated with skin pigmentation variation and freckling in European populations. - **CT / TC** (typical / lower): Intermediate pigmentation signal. - **CC** (typical / lower): Ancestral BNC2 variant. References: PMID:18488028; 1000 Genomes ## rs4834272 (ALPK1) Source: https://orviva.ai/learn/snps/rs4834272 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243984 ## rs4837613 (ASTN2, ASTN2-AS1) Source: https://orviva.ai/learn/snps/rs4837613 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.018). [GWAS Catalog] - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.018). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs4837631 (BRINP1) Source: https://orviva.ai/learn/snps/rs4837631 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs4841132 (PPP1R3B-DT) Source: https://orviva.ai/learn/snps/rs4841132 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (OR=0.14). [GWAS Catalog] - **GG** (typical): G allele associated with increased Calcium levels (β=0.058). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018951 ## rs4841133 (PPP1R3B-DT) Source: https://orviva.ai/learn/snps/rs4841133 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Cholesterol esters in medium HDL (β=0.090). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.023). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs4841411 (RP1L1) Source: https://orviva.ai/learn/snps/rs4841411 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Total lipid levels in very large HDL (β=0.024). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90093010 ## rs4841567 (LINC00208) Source: https://orviva.ai/learn/snps/rs4841567 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Systolic blood pressure (OR=0.37). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-hip index (β=0.026). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132903 ## rs4841659 (OR7E161P - DEFB136) Source: https://orviva.ai/learn/snps/rs4841659 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.34). [GWAS Catalog] - **CC** (typical): C allele associated with increased Ratio of polyunsaturated fatty acids to monounsaturated fatty acids (β=0.030). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092940 ## rs484195 (APOC1) Source: https://orviva.ai/learn/snps/rs484195 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of High cholesterol (OR=0.12). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total fatty acids levels (UKB data field 23442) (β=0.071). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269539 ## rs4845604 (RORC) Source: https://orviva.ai/learn/snps/rs4845604 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Hay fever and/or eczema (OR=1.09). [GWAS Catalog] - **AA** (increased): A allele associated with increased Educational attainment (β=0.009). [GWAS Catalog] References: PMID:31361310; GWAS Catalog; GCST009717 ## rs4846567 (LYPLAL1-AS1 - ZC3H11B) Source: https://orviva.ai/learn/snps/rs4846567 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Waist-hip ratio (β=0.030). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.18). [GWAS Catalog] References: PMID:33230300; GWAS Catalog; GCST90292477 ## rs484943 (BMF) Source: https://orviva.ai/learn/snps/rs484943 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Cholesteryl Esters to Total Lipids in Medium VLDL percentage (β=0.010). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.010). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs4849902 (LINC01101 - Y_RNA) Source: https://orviva.ai/learn/snps/rs4849902 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased triglyceride (mean, inv-norm transformed) (β=0.022). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-hip index (β=0.016). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480718 ## rs4851250 (AFF3) Source: https://orviva.ai/learn/snps/rs4851250 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Intelligence (MTAG) (β=0.032). [GWAS Catalog] - **CC** (typical): C allele associated with increased High density lipoprotein cholesterol levels (β=0.015). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239652 ## rs4851462 (ZAP70) Source: https://orviva.ai/learn/snps/rs4851462 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Diastolic blood pressure (OR=0.12). [GWAS Catalog] - **TT** (increased): T allele associated with increased Insomnia (β=0.006). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs485499 (IL12A-AS1, LINC01100) Source: https://orviva.ai/learn/snps/rs485499 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Systemic lupus erythematosus (MTAG) (β=0.083). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.009). [GWAS Catalog] References: PMID:36750564; GWAS Catalog; GCST90270940 ## rs4856605 (CADM2) Source: https://orviva.ai/learn/snps/rs4856605 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.014). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs4857329 (NSUN3 - ARMC10P1) Source: https://orviva.ai/learn/snps/rs4857329 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Polyunsaturated fatty acids to monounsaturated fatty acids ratio (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501230 ## rs4858241 (SGO1-AS1) Source: https://orviva.ai/learn/snps/rs4858241 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Osteoarthritis (OR=1.02). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs4864201 (LINC02466, LINC02465) Source: https://orviva.ai/learn/snps/rs4864201 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.014). [GWAS Catalog] - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.019). [GWAS Catalog] References: PMID:40645996; GWAS Catalog; GCST90624411 ## rs4870492 (ARID1B) Source: https://orviva.ai/learn/snps/rs4870492 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.006). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs4870941 (TRIB1AL) Source: https://orviva.ai/learn/snps/rs4870941 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Standing height (UKB data field 50) (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total cholesterol levels (β=0.045). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs487152 (SLC22A3) Source: https://orviva.ai/learn/snps/rs487152 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Body mass index (β=0.018). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum urate levels (β=0.015). [GWAS Catalog] References: PMID:39406924; GWAS Catalog; GCST90455669 ## rs4871827 (DEPTOR) Source: https://orviva.ai/learn/snps/rs4871827 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.012). [GWAS Catalog] - **AA** (increased): A allele associated with increased A body shape index (β=0.018). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020024 ## rs4877285 (PSAT1 - MTND2P8) Source: https://orviva.ai/learn/snps/rs4877285 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs4883201 (PHC1) Source: https://orviva.ai/learn/snps/rs4883201 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.019). [GWAS Catalog] - **AA** (typical): A allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.066). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475352 ## rs4883263 (CD163) Source: https://orviva.ai/learn/snps/rs4883263 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.017). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Thioredoxin reductase 1, cytoplasmic level in Chronic kidney disease with hyp... (OR=0.63). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs4886869 (HMG20A - LINGO1) Source: https://orviva.ai/learn/snps/rs4886869 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Adiposity (multivariate analysis) (β=0.013). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs4888444 (TERF2IP) Source: https://orviva.ai/learn/snps/rs4888444 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.024). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.023). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs4889891 (CBX8) Source: https://orviva.ai/learn/snps/rs4889891 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] - **AA** (typical): A allele associated with increased Drinks per week (β=0.005). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs4894803 (FNDC3B) Source: https://orviva.ai/learn/snps/rs4894803 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Hypertrophic cardiomyopathy (MTAG) (OR=0.18). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-hip ratio (β=0.015). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008997 ## rs4895864 (L3MBTL3) Source: https://orviva.ai/learn/snps/rs4895864 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.021). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.010). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662895 ## rs4902704 (EXD2) Source: https://orviva.ai/learn/snps/rs4902704 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Smoking cessation (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Depressed affect (β=0.014). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243980 ## rs4908760 (RERE) Source: https://orviva.ai/learn/snps/rs4908760 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (slightly elevated): G allele associated with slightly increased risk of Vitiligo (OR=1.36). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] References: PMID:20410501; GWAS Catalog; GCST000662 ## rs4909323 (ZFAT) Source: https://orviva.ai/learn/snps/rs4909323 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.015). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.011). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428446 ## rs490972 (TMEM151A - CD248) Source: https://orviva.ai/learn/snps/rs490972 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased Polyunsaturated fatty acids to total fatty acids percentage (β=0.010). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.014). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501231 ## rs4911466 (TRPC4AP - EDEM2) Source: https://orviva.ai/learn/snps/rs4911466 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with slightly decreased risk of Basal cell carcinoma (OR=0.82). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.022). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs4912332 (DAB1) Source: https://orviva.ai/learn/snps/rs4912332 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.014). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007474 ## rs4917 (HRG-AS1, AHSG) Source: https://orviva.ai/learn/snps/rs4917 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (slightly elevated): C allele associated with slightly increased risk of Alpha-2-HS-glycoprotein level in Chronic kidney disease with hypertension and... (OR=1.26). [GWAS Catalog] - **TT** (typical): T allele associated with increased Calcium (maximum, inv-norm transformed) (β=0.029). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479529 ## rs4921913 (NAT2 - PSD3) Source: https://orviva.ai/learn/snps/rs4921913 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased triglyceride (maximum, inv-norm transformed) (β=0.061). [GWAS Catalog] - **TT** (typical): T allele associated with increased Monounsaturated fatty acid levels (β=0.030). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501218 ## rs4923464 (BDNF-AS, BDNF) Source: https://orviva.ai/learn/snps/rs4923464 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.017). [GWAS Catalog] - **CC** (typical): C allele associated with increased Obesity (PheCode 278.1) (β=0.053). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479952 ## rs492571 (FRMD5) Source: https://orviva.ai/learn/snps/rs492571 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased HDL cholesterol levels (β=0.019). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.027). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245844 ## rs4930731 (DNAH10) Source: https://orviva.ai/learn/snps/rs4930731 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Waist-hip index (β=0.037). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (MTAG) (β=0.017). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179149 ## rs494144 (NOX4) Source: https://orviva.ai/learn/snps/rs494144 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.17). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (baseline) (β=0.007). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs4947263 (LINC03003) Source: https://orviva.ai/learn/snps/rs4947263 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Depression (broad) (β=0.013). [GWAS Catalog] - **CC** (increased): C allele associated with increased Duration to complete alphanumeric path task (baseline) (β=0.034). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565839 ## rs4959062 (HLA-B) Source: https://orviva.ai/learn/snps/rs4959062 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.020). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of HDL cholesterol levels (OR=0.57). [GWAS Catalog] References: PMID:35884923; GWAS Catalog; GCST90134519 ## rs4960263 (BTF3P7 - RN7SL554P) Source: https://orviva.ai/learn/snps/rs4960263 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Height (standard GWA) (OR=0.21). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Osteoarthritis of the hip or knee (with total joint replacement) (OR=1.07). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566804 ## rs4961741 (BNC2) Source: https://orviva.ai/learn/snps/rs4961741 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs4969142 (PGS1) Source: https://orviva.ai/learn/snps/rs4969142 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Concentration of HDL particles (β=0.030). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.009). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs4969187 (PGS1) Source: https://orviva.ai/learn/snps/rs4969187 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Triglycerides to Total Lipids in IDL percentage (β=0.030). [GWAS Catalog] - **TT** (typical): T allele associated with increased Linoleic acid percentage of total fatty acids (β=0.019). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501132 ## rs4976033 (PIK3R1 - LINC02198) Source: https://orviva.ai/learn/snps/rs4976033 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Cholesteryl Esters to Total Lipids in Medium VLDL percentage (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs4979373 (AKNA) Source: https://orviva.ai/learn/snps/rs4979373 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased ADH1B protein levels (β=0.057). [GWAS Catalog] - **CC** (typical): C allele associated with increased diastolic blood pressure (DBP, mean, inv-normal transformed) (β=0.017). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468243 ## rs4983559 (ZBTB42 - VESTAR) Source: https://orviva.ai/learn/snps/rs4983559 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Standing height (UKB data field 50) (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased HDL cholesterol (β=0.020). [GWAS Catalog] References: PMID:24097068; GWAS Catalog; GCST002223 ## rs4985155 (PDXDC1) Source: https://orviva.ai/learn/snps/rs4985155 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid) (OR=0.22). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cholesterol to Total Lipids in Medium LDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501195 ## rs4987855 (BCL2) Source: https://orviva.ai/learn/snps/rs4987855 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.012). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Chronic lymphocytic leukemia (OR=1.47). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs4988235 (LCT/MCM6) Source: https://orviva.ai/learn/snps/rs4988235 (curated, human-reviewed; category: Trait; effect allele T) - **TT** (typical / lower): Lactase persistent. Can digest lactose into adulthood. Common in Northern European populations. - **CT / TC** (typical / lower): Likely lactose tolerant. One copy of persistence allele is usually sufficient. - **CC** (typical / lower): Likely lactose intolerant. Lactase production decreases after childhood. Common in East Asian and African populations. References: PMID:11788828; OMIM:601806 ## rs4988321 (LRP5) Source: https://orviva.ai/learn/snps/rs4988321 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.056). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hip index (β=0.042). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs5030655 (CYP2D6) Source: https://orviva.ai/learn/snps/rs5030655 (curated, human-reviewed; category: Drug response; effect allele delT) - **delT** (reduced): CYP2D6*6 carrier (1707delT frameshift). Loss of CYP2D6 function. References: CPIC; PharmVar ## rs5030865 (CYP2D6) Source: https://orviva.ai/learn/snps/rs5030865 (curated, human-reviewed; category: Drug response; effect allele T) - **TT** (reduced): CYP2D6*8 homozygous (1758G>T). Loss of CYP2D6 function. - **GT / TG** (reduced): CYP2D6*8 carrier. Non-functional allele. - **GG** (typical): No CYP2D6*8 variant detected. References: CPIC; PharmVar ## rs5030867 (CYP2D6) Source: https://orviva.ai/learn/snps/rs5030867 (curated, human-reviewed; category: Drug response; effect allele C) - **CC** (reduced): CYP2D6*7 homozygous (H324P). Loss of CYP2D6 function. - **AC / CA** (reduced): CYP2D6*7 carrier. Non-functional allele. - **AA** (typical): No CYP2D6*7 variant detected. References: CPIC; PharmVar ## rs5030868 (G6PD) Source: https://orviva.ai/learn/snps/rs5030868 (imported from public databases, not individually reviewed; category: Drug response; effect allele A) - **GG** (typical): Normal G6PD function at Mediterranean variant position. - **GA** (increased): G6PD Mediterranean variant carrier. Severe G6PD deficiency. Rasburicase, primaquine, dapsone contraindicated. - **AA** (increased): G6PD Mediterranean variant homozygous/hemizygous. Severe G6PD deficiency. References: PMID:24787449; CPIC ## rs504915 (NRXN2) Source: https://orviva.ai/learn/snps/rs504915 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Renal function-related traits (urate) (OR=0.23). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.019). [GWAS Catalog] References: PMID:22797727; GWAS Catalog; GCST001608 ## rs505802 (SLC22A11 - SLC22A12) Source: https://orviva.ai/learn/snps/rs505802 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Serum uric acid levels (OR=0.20). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.015). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs506338 (NRXN2) Source: https://orviva.ai/learn/snps/rs506338 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Urate levels (OR=0.23). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.012). [GWAS Catalog] References: PMID:20139978; GWAS Catalog; GCST000581 ## rs509067 (RNA5SP214 - VGLL2) Source: https://orviva.ai/learn/snps/rs509067 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.015). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.13). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132904 ## rs516316 (FUT2) Source: https://orviva.ai/learn/snps/rs516316 (imported from public databases, not individually reviewed; category: Drug response; effect allele C) - **GG** (typical): G allele associated with increased LDL cholesterol levels (β=0.030). [GWAS Catalog] - **CC** (typical): C allele associated with increased CST1 protein levels (β=0.049). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468893 ## rs522110 (CRTAC1) Source: https://orviva.ai/learn/snps/rs522110 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.016). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triglycerides (β=0.016). [GWAS Catalog] References: PMID:33980691; GWAS Catalog; GCST90020235 ## rs523118 (RPL31P23 - PCCB) Source: https://orviva.ai/learn/snps/rs523118 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglyceride levels in IDL (β=0.050). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total fatty acid levels (β=0.020). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092841 ## rs525651 (CRTAC1) Source: https://orviva.ai/learn/snps/rs525651 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (typical): A allele associated with increased Omega-6 fatty acids to total fatty acids percentage (β=0.010). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total lipid levels in very large VLDL (β=0.026). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90093022 ## rs528350911 (LINC02490 - WDR72) Source: https://orviva.ai/learn/snps/rs528350911 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.053). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Type 2 diabetes (OR=1.27). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs531763 (SLC22A11 - SLC22A12) Source: https://orviva.ai/learn/snps/rs531763 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Urate levels (OR=0.12). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.014). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018947 ## rs534417 (ASAP3) Source: https://orviva.ai/learn/snps/rs534417 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Concentration of small VLDL particles (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Omega-6 fatty acid levels (β=0.039). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501265 ## rs535064984 (ASGR2 - RPL7AP64) Source: https://orviva.ai/learn/snps/rs535064984 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of LDL cholesterol (OR=0.38). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Iron status biomarkers (ferritin levels) (OR=0.23). [GWAS Catalog] References: PMID:33536631; GWAS Catalog; GCST011369 ## rs535777 (HLA-DRB1 - HLA-DQA1) Source: https://orviva.ai/learn/snps/rs535777 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (typical / lower): C allele associated with decreased risk of FOLR2 protein levels (OR=0.11). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Help-seeking from a psychiatrist (OR=1.08). [GWAS Catalog] References: PMID:32231276; GWAS Catalog; GCST010012 ## rs538656 (RNU4-17P - MC4R) Source: https://orviva.ai/learn/snps/rs538656 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (β=0.054). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Obesity (OR=1.15). [GWAS Catalog] References: PMID:23563607; GWAS Catalog; GCST001953 ## rs539515 (LINC01741 - SEC16B) Source: https://orviva.ai/learn/snps/rs539515 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (β=0.058). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Type 2 diabetes (OR=1.06). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs540730 (R3HDM2) Source: https://orviva.ai/learn/snps/rs540730 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.018). [GWAS Catalog] - **CC** (typical): C allele associated with increased Free cholesterol levels in chylomicrons and extremely large VLDL (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501334 ## rs540973884 (LINC01625 - ATP5PBP6) Source: https://orviva.ai/learn/snps/rs540973884 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Free Cholesterol to Total Lipids in Large LDL percentage (β=0.030). [GWAS Catalog] - **TT** (typical): T allele associated with increased Saturated fatty acid levels (β=0.028). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501151 ## rs543874 (LINC01741 - SEC16B) Source: https://orviva.ai/learn/snps/rs543874 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Body mass index (β=0.043). [GWAS Catalog] - **AA** (typical): A allele associated with increased Obesity (PheCode 278.1) (β=0.052). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479952 ## rs545608 (CRYZL2P-SEC16B, SEC16B) Source: https://orviva.ai/learn/snps/rs545608 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.035). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.051). [GWAS Catalog] References: PMID:28552196; GWAS Catalog; GCST008158 ## rs545779157 (CLEC10A - ASGR2) Source: https://orviva.ai/learn/snps/rs545779157 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Triglycerides in very large HDL (OR=0.23). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Omega-6 fatty acid levels (OR=0.14). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092933 ## rs549845 (PTPRF) Source: https://orviva.ai/learn/snps/rs549845 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Attention deficit hyperactivity disorder (β=0.028). [GWAS Catalog] - **GG** (increased): G allele associated with increased Fluid intelligence score (baseline) (β=0.019). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565842 ## rs553664615 (PPP3R1) Source: https://orviva.ai/learn/snps/rs553664615 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.011). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs553951 (MPPED2) Source: https://orviva.ai/learn/snps/rs553951 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.018). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of PR interval (OR=0.39). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs556107 (LINC00184 - LINC01132) Source: https://orviva.ai/learn/snps/rs556107 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Non-HDL cholesterol levels (β=0.041). [GWAS Catalog] - **TT** (typical): T allele associated with increased Polyunsaturated fatty acid levels (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501229 ## rs55646464 (CPEB4) Source: https://orviva.ai/learn/snps/rs55646464 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with increased Average diameter for VLDL particles (β=0.010). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.009). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs55676755 (CHRNA3) Source: https://orviva.ai/learn/snps/rs55676755 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with marginally increased risk of Chronic obstructive pulmonary disease (OR=1.11). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Emphysema imaging phenotypes (OR=0.11). [GWAS Catalog] References: PMID:26030696; GWAS Catalog; GCST002945 ## rs55726223 (NYAP2 - MIR5702) Source: https://orviva.ai/learn/snps/rs55726223 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased High density lipoprotein cholesterol levels (β=0.034). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.017). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs55737395 (SLC7A10 - CEBPA) Source: https://orviva.ai/learn/snps/rs55737395 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.013). [GWAS Catalog] - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.005). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010244 ## rs55747707 (MLXIPL) Source: https://orviva.ai/learn/snps/rs55747707 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Triglycerides to Total Lipids in Large HDL percentage (β=0.080). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total fatty acid levels (β=0.080). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092987 ## rs557675 (OVOL1 - CFL1) Source: https://orviva.ai/learn/snps/rs557675 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Hypertension (β=0.041). [GWAS Catalog] - **TT** (increased): T allele associated with increased Educational attainment (β=0.006). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs55772859 (MYOSLID) Source: https://orviva.ai/learn/snps/rs55772859 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Depression (β=0.022). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Insomnia (OR=1.04). [GWAS Catalog] References: PMID:30804565; GWAS Catalog; GCST007988 ## rs55781567 (CHRNA5) Source: https://orviva.ai/learn/snps/rs55781567 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (slightly elevated): G allele associated with slightly increased risk of Lung cancer or family history of lung cancer (OR=1.24). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Squamous cell lung carcinoma (conditioned on cigarettes per day) (OR=0.77). [GWAS Catalog] References: PMID:39366959; GWAS Catalog; GCST90455520 ## rs55791371 (SMARCA4) Source: https://orviva.ai/learn/snps/rs55791371 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (typical / lower): A allele associated with decreased risk of Coronary artery disease (OR=0.12). [GWAS Catalog] - **CC** (typical): C allele associated with increased Vitamin D insufficiency (β=0.081). [GWAS Catalog] References: PMID:34308111; GWAS Catalog; GCST90020244 ## rs55803020 (CTNNA2) Source: https://orviva.ai/learn/snps/rs55803020 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs55831773 (ATP1B2) Source: https://orviva.ai/learn/snps/rs55831773 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.018). [GWAS Catalog] - **TT** (typical): T allele associated with increased Low-density lipoprotein levels (MTAG) (β=0.010). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179148 ## rs55873331 (BSN) Source: https://orviva.ai/learn/snps/rs55873331 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Duration to complete alphanumeric path task (baseline) (β=0.036). [GWAS Catalog] - **TT** (typical): T allele associated with increased Cystatin C levels (β=0.023). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565839 ## rs55886062 (DPYD) Source: https://orviva.ai/learn/snps/rs55886062 (imported from public databases, not individually reviewed; category: Drug response; effect allele A) - **TT** (typical): Normal DPYD function at this position. - **TA** (increased): DPYD *13 carrier. Increased risk of fluoropyrimidine toxicity. - **AA** (increased): DPYD *13 homozygous. High risk of fluoropyrimidine toxicity. References: PMID:29152729; CPIC ## rs55938136 (LINC02210-CRHR1) Source: https://orviva.ai/learn/snps/rs55938136 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Alcohol frequency weekly (standard GWA) (OR=0.28). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hand grip strength (baseline) (β=0.014). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565845 ## rs56001710 (LINC03007 - MIR148A) Source: https://orviva.ai/learn/snps/rs56001710 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglycerides to Total Lipids in Very Large HDL percentage (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Ratio of omega-6 fatty acids to total fatty acids (β=0.034). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501305 ## rs56004000 (TYW1B) Source: https://orviva.ai/learn/snps/rs56004000 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Caudate iron levels (quantitative susceptibility mapping) (β=0.057). [GWAS Catalog] - **TT** (increased): T allele associated with increased Educational attainment (MTAG) (β=0.009). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006571 ## rs56030824 (SPI1) Source: https://orviva.ai/learn/snps/rs56030824 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Alcohol consumption (drinks per month) (UKB data field 1578, 4424) (β=0.018). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.021). [GWAS Catalog] References: PMID:38538606; GWAS Catalog; GCST90428119 ## rs56038477 (DPYD) Source: https://orviva.ai/learn/snps/rs56038477 (imported from public databases, not individually reviewed; category: Drug response; effect allele A) - **GG** (typical): Normal DPYD function (no HapB3). - **GA** (increased): DPYD HapB3 carrier. Decreased enzyme function; dose reduction recommended for fluoropyrimidines. - **AA** (increased): DPYD HapB3 homozygous. Significantly decreased enzyme function. References: PMID:29152729; CPIC ## rs56059718 (RASGRP1) Source: https://orviva.ai/learn/snps/rs56059718 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (β=0.012). [GWAS Catalog] - **CC** (typical): C allele associated with increased Depression (β=0.021). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs560887 (G6PC2, SPC25) Source: https://orviva.ai/learn/snps/rs560887 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Fasting blood glucose (BMI interaction) (β=0.000). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Metabolic syndrome (OR=0.15). [GWAS Catalog] References: PMID:22581228; GWAS Catalog; GCST001527 ## rs56094562 (LINC02568 - USP3) Source: https://orviva.ai/learn/snps/rs56094562 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased total cholesterol (maximum, inv-norm transformed) (β=0.023). [GWAS Catalog] - **CC** (typical): C allele associated with increased Polyunsaturated fatty acid levels (β=0.010). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476420 ## rs56105022 (CNIH4) Source: https://orviva.ai/learn/snps/rs56105022 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with increased HDL cholesterol levels (β=0.034). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs56131196 (APOC1) Source: https://orviva.ai/learn/snps/rs56131196 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Low density lipoprotein cholesterol levels (OR=0.16). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Cerebral amyloid deposition (PET imaging) (OR=0.14). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007141 ## rs561655 (PICALM - RNU6-560P) Source: https://orviva.ai/learn/snps/rs561655 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (increased): A allele associated with increased Educational attainment (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased Putamen iron levels (R2* MRI) (β=0.054). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551870 ## rs56168640 (SGO1-AS1) Source: https://orviva.ai/learn/snps/rs56168640 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs56172794 (ECE2, EEF1AKMT4-ECE2) Source: https://orviva.ai/learn/snps/rs56172794 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (BMI, minimum, inv-normal transformed) (β=0.034). [GWAS Catalog] - **TT** (typical): T allele associated with increased Drinks per week (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs56196860 (FKBP4, ITFG2-AS1) Source: https://orviva.ai/learn/snps/rs56196860 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.023). [GWAS Catalog] - **CC** (typical): C allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.069). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475352 ## rs56226746 (SH2B1) Source: https://orviva.ai/learn/snps/rs56226746 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (BMI, mean, inv-normal transformed) (β=0.043). [GWAS Catalog] - **AA** (typical): A allele associated with increased Drinks per week (β=0.009). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479522 ## rs56267346 (CYP2A6) Source: https://orviva.ai/learn/snps/rs56267346 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (high): A allele associated with substantially increased risk of Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trim... (OR=6.13). [GWAS Catalog] - **GG** (typical): G allele associated with increased LDL cholesterol (β=0.018). [GWAS Catalog] References: PMID:27702941; GWAS Catalog; GCST003851 ## rs56271783 (VEGFB) Source: https://orviva.ai/learn/snps/rs56271783 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical / lower): G allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (OR=0.10). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-hip index (β=0.095). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs56319043 (KDM4A-AS1) Source: https://orviva.ai/learn/snps/rs56319043 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with marginally increased risk of Attention deficit hyperactivity disorder or cannabis use (OR=1.09). [GWAS Catalog] - **TT** (increased): T allele associated with increased Cigarettes smoked per day (MTAG) (β=0.014). [GWAS Catalog] References: PMID:30610198; GWAS Catalog; GCST006983 ## rs56322906 (DOCK6) Source: https://orviva.ai/learn/snps/rs56322906 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased High density lipoprotein cholesterol levels (β=0.079). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Polyunsaturated fatty acid levels (OR=0.10). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239652 ## rs56363908 (DLX6-AS1) Source: https://orviva.ai/learn/snps/rs56363908 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Standing height (UKB data field 50) (β=0.021). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.032). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs56367474 (DNAJA1P1 - HMGN2P39) Source: https://orviva.ai/learn/snps/rs56367474 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.009). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs56376587 (NFATC1) Source: https://orviva.ai/learn/snps/rs56376587 (imported from public databases, not individually reviewed; category: Drug response; effect allele C) - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.039). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum urate levels (β=0.019). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428446 ## rs56403421 (CCDC68 - LINC01929) Source: https://orviva.ai/learn/snps/rs56403421 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Depression (β=0.019). [GWAS Catalog] - **CC** (increased): C allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.007). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs56407236 (FAM157C) Source: https://orviva.ai/learn/snps/rs56407236 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with marginally increased risk of Alzheimer's disease (OR=1.11). [GWAS Catalog] - **GG** (typical): G allele associated with increased Pallidum iron levels (R2* MRI) (β=0.076). [GWAS Catalog] References: PMID:35379992; GWAS Catalog; GCST90027158 ## rs565522 (INKA2) Source: https://orviva.ai/learn/snps/rs565522 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Educational attainment (β=0.006). [GWAS Catalog] - **CC** (typical): C allele associated with increased Diastolic blood pressure (β=0.086). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs565840574 (TMEM236 - MRC1) Source: https://orviva.ai/learn/snps/rs565840574 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Cholesteryl Esters to Total Lipids in Large LDL percentage (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (baseline) (β=0.009). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501149 ## rs566465 (SPC25, NOSTRIN) Source: https://orviva.ai/learn/snps/rs566465 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased height (mean, inv-normal transformed) (β=0.060). [GWAS Catalog] - **TT** (typical): T allele associated with increased Free cholesterol in very large HDL (β=0.010). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475362 ## rs566673 (RBM14-RBM4) Source: https://orviva.ai/learn/snps/rs566673 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Height (baseline) (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Migraine (OR=1.03). [GWAS Catalog] References: PMID:35115687; GWAS Catalog; GCST90102553 ## rs567056 (MPPED2) Source: https://orviva.ai/learn/snps/rs567056 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Hip circumference (UKB data field 49) (β=0.016). [GWAS Catalog] - **GG** (typical): G allele associated with increased HDL cholesterol levels (β=0.011). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs56823429 (CMIP) Source: https://orviva.ai/learn/snps/rs56823429 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Phospholipids to Total Lipids in Large HDL percentage (β=0.020). [GWAS Catalog] - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.022). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs56920577 (ADGRL2 - LINC01362) Source: https://orviva.ai/learn/snps/rs56920577 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs571312 (RNU4-17P - MC4R) Source: https://orviva.ai/learn/snps/rs571312 (imported from public databases, not individually reviewed; category: Drug response; effect allele A) - **CC** (increased): C allele associated with increased Body mass index (β=0.049). [GWAS Catalog] - **AA** (typical): A allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.020). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428448 ## rs57158761 (IGF2BP2) Source: https://orviva.ai/learn/snps/rs57158761 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.046). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs57215491 (CEBPA-DT - RPS3AP50) Source: https://orviva.ai/learn/snps/rs57215491 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased A body shape index (β=0.031). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.020). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020024 ## rs573455 (CEP164) Source: https://orviva.ai/learn/snps/rs573455 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Triglyceride levels (MTAG) (β=0.026). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.009). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179149 ## rs574087 (PRDX5 - CCDC88B) Source: https://orviva.ai/learn/snps/rs574087 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs5742915 (PML) Source: https://orviva.ai/learn/snps/rs5742915 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.031). [GWAS Catalog] - **TT** (typical): T allele associated with increased Diabetes mellitus (PheCode 250) (β=0.027). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475658 ## rs5744552 (POLK) Source: https://orviva.ai/learn/snps/rs5744552 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Cholesterol to Total Lipids in Large LDL percentage (β=0.030). [GWAS Catalog] - **CC** (typical): C allele associated with increased Saturated fatty acid levels (β=0.027). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501147 ## rs57457691 (PEPD) Source: https://orviva.ai/learn/snps/rs57457691 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Ratio of triglycerides to phosphoglycerides (β=0.030). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.018). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018727 ## rs5746255 (RAF1, MKRN2) Source: https://orviva.ai/learn/snps/rs5746255 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Low-density lipoprotein levels (MTAG) (β=0.015). [GWAS Catalog] - **GG** (increased): G allele associated with increased Hip index (β=0.028). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179148 ## rs5751350 (A4GALT - Y_RNA) Source: https://orviva.ai/learn/snps/rs5751350 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Calcium levels (β=0.017). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019500 ## rs5753630 (DRG1, EIF4ENIF1) Source: https://orviva.ai/learn/snps/rs5753630 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.13). [GWAS Catalog] - **GG** (increased): G allele associated with increased Smoking cessation (β=0.006). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132904 ## rs5754387 (UBE2L3) Source: https://orviva.ai/learn/snps/rs5754387 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Height (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.016). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs5757680 (MGAT3) Source: https://orviva.ai/learn/snps/rs5757680 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (increased): T allele associated with increased Height (β=0.014). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Immunoglobulin G N-glycan peak 10 levels in type 1 diabetes (OR=0.41). [GWAS Catalog] References: PMID:36907892; GWAS Catalog; GCST90271821 ## rs5757730 (CACNA1I) Source: https://orviva.ai/learn/snps/rs5757730 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Educational attainment (years of education) (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Schizophrenia (OR=1.07). [GWAS Catalog] References: PMID:30285260; GWAS Catalog; GCST007201 ## rs5758343 (TEF - TOB2) Source: https://orviva.ai/learn/snps/rs5758343 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with marginally increased risk of Allergic disease (asthma, hay fever or eczema) (OR=1.05). [GWAS Catalog] - **TT** (typical): T allele associated with increased Alcohol consumption (drinks per week) (MTAG) (β=0.013). [GWAS Catalog] References: PMID:29083406; GWAS Catalog; GCST005038 ## rs577721086 (RSPO3) Source: https://orviva.ai/learn/snps/rs577721086 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Waist-to-hip ratio adjusted for BMI (OR=0.17). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglycerides to Total Lipids in Small HDL percentage (β=0.099). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90499519 ## rs57800857 (MAML3) Source: https://orviva.ai/learn/snps/rs57800857 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Body mass index (β=0.016). [GWAS Catalog] - **CC** (typical): C allele associated with increased Phospholipids to Total Lipids in Large HDL percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501143 ## rs58084604 (RNU4-17P - MC4R) Source: https://orviva.ai/learn/snps/rs58084604 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Adult body size (β=0.035). [GWAS Catalog] - **TT** (typical): T allele associated with increased HDL cholesterol levels (β=0.007). [GWAS Catalog] References: PMID:30698716; GWAS Catalog; GCST008070 ## rs58199976 (LINC01460) Source: https://orviva.ai/learn/snps/rs58199976 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Low-density lipoprotein levels (MTAG) (β=0.033). [GWAS Catalog] - **CC** (typical): C allele associated with increased Drinks per week (β=0.014). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243984 ## rs58235267 (OTX1) Source: https://orviva.ai/learn/snps/rs58235267 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with marginally increased risk of Prostate cancer (OR=1.12). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (BMI, mean, inv-normal transformed) (β=0.019). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475156 ## rs58365910 (PSMA4 - CHRNA5) Source: https://orviva.ai/learn/snps/rs58365910 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Smoking cessation (β=0.015). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Biological Sibling: Cancer, Lung (OR=0.10). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480678 ## rs58489806 (MAU2) Source: https://orviva.ai/learn/snps/rs58489806 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Ratio of omega-6 fatty acids to total fatty acids (β=0.070). [GWAS Catalog] - **TT** (elevated): T allele associated with moderately increased risk of Hepatocellular carcinoma in alcohol related cirrhosis (OR=1.88). [GWAS Catalog] References: PMID:35788059; GWAS Catalog; GCST90134423 ## rs58713827 (HCN1) Source: https://orviva.ai/learn/snps/rs58713827 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased QRS duration (β=0.021). [GWAS Catalog] References: PMID:36050321; GWAS Catalog; GCST90179161 ## rs58729412 (ADGRV1) Source: https://orviva.ai/learn/snps/rs58729412 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] - **TT** (typical): T allele associated with increased Serum urate levels (β=0.016). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs58843120 (ABCB9) Source: https://orviva.ai/learn/snps/rs58843120 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with increased High density lipoprotein cholesterol levels (β=0.083). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (additive genetic model) (β=0.056). [GWAS Catalog] References: PMID:30778226; GWAS Catalog; GCST007487 ## rs58843873 (TBX3-AS1 - UBA52P7) Source: https://orviva.ai/learn/snps/rs58843873 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.015). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum urate levels (β=0.015). [GWAS Catalog] References: PMID:39406924; GWAS Catalog; GCST90455669 ## rs58862095 (POM121C) Source: https://orviva.ai/learn/snps/rs58862095 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Morbid obesity (PheCode 278.11) (β=0.058). [GWAS Catalog] - **TT** (increased): T allele associated with increased Cigarettes smoked per day (MTAG) (β=0.015). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179151 ## rs589253 (DRAP1 - TSGA10IP) Source: https://orviva.ai/learn/snps/rs589253 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Primary open angle glaucoma (MTAG) (β=0.052). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs590414 (GRIA4) Source: https://orviva.ai/learn/snps/rs590414 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs591939 (NAGLU - HSD17B1P1) Source: https://orviva.ai/learn/snps/rs591939 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Triglyceride levels (UKB data field 30870) (β=0.018). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-hip ratio (β=0.018). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008996 ## rs592373 (LSP1) Source: https://orviva.ai/learn/snps/rs592373 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.010). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Systolic blood pressure (OR=0.54). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132903 ## rs5937157 (EFNB1 - PJA1) Source: https://orviva.ai/learn/snps/rs5937157 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (high): T allele associated with substantially increased risk of Brain region volumes (right ventral DC) (OR=6.80). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Schizophrenia (OR=1.07). [GWAS Catalog] References: PMID:39854466; GWAS Catalog; GCST90566451 ## rs59412811 (SMIM29-AS1) Source: https://orviva.ai/learn/snps/rs59412811 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (typical / lower): C allele associated with decreased risk of Height (OR=0.41). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total body bone mineral density (MTAG) (β=0.040). [GWAS Catalog] References: PMID:30690781; GWAS Catalog; GCST008603 ## rs59421388 (CYP2D6) Source: https://orviva.ai/learn/snps/rs59421388 (curated, human-reviewed; category: Drug response; effect allele T) - **TT** (reduced): CYP2D6*29 homozygous (V136I). Decreased CYP2D6 function; common in African populations. - **CT / TC** (reduced): CYP2D6*29 carrier. Decreased function allele. - **CC** (typical): No CYP2D6*29 variant detected. References: CPIC; PharmVar ## rs59646751 (IGF1R) Source: https://orviva.ai/learn/snps/rs59646751 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.006). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.024). [GWAS Catalog] References: PMID:34272381; GWAS Catalog; GCST90103635 ## rs59724122 (GULOP) Source: https://orviva.ai/learn/snps/rs59724122 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.028). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.014). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs59770119 (LYPLAL1-AS1) Source: https://orviva.ai/learn/snps/rs59770119 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased High density lipoprotein cholesterol levels (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with increased Linoleic acid percentage of total fatty acids (β=0.017). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454486 ## rs59774409 (FCGRT) Source: https://orviva.ai/learn/snps/rs59774409 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.018). [GWAS Catalog] - **CC** (typical): C allele associated with increased Monounsaturated fatty acid levels (β=0.049). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012106 ## rs59950280 (HGFAC - DOK7) Source: https://orviva.ai/learn/snps/rs59950280 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased triglyceride (minimum, inv-norm transformed) (β=0.044). [GWAS Catalog] - **AA** (typical): A allele associated with increased Polyunsaturated fatty acids to monounsaturated fatty acids ratio (β=0.020). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476439 ## rs59985551 (EFEMP1) Source: https://orviva.ai/learn/snps/rs59985551 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.049). [GWAS Catalog] - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.026). [GWAS Catalog] References: PMID:40645996; GWAS Catalog; GCST90624412 ## rs6000553 (TMPRSS6) Source: https://orviva.ai/learn/snps/rs6000553 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical): A allele associated with increased Iron deficiency anemias (PheCode 280) (β=0.091). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triglycerides to Total Lipids in Small VLDL percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501269 ## rs60049679 (APOC1P1, APOC1P1) Source: https://orviva.ai/learn/snps/rs60049679 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Low density lipoprotein cholesterol levels (OR=0.14). [GWAS Catalog] - **GG** (increased): G allele associated with increased Symbol digit substitution test performance (baseline) (β=0.043). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019512 ## rs600518 (RN7SL786P - DGAT2-DT) Source: https://orviva.ai/learn/snps/rs600518 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **TT** (typical): T allele associated with increased Phospholipids in medium HDL (β=0.070). [GWAS Catalog] - **AA** (typical): A allele associated with increased Ratio of omega-3 fatty acids to total fatty acids (β=0.052). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90301960 ## rs600626 (RN7SL786P - DGAT2-DT) Source: https://orviva.ai/learn/snps/rs600626 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Phospholipids in HDL (β=0.060). [GWAS Catalog] - **AA** (typical): A allele associated with increased Ratio of omega-3 fatty acids to total fatty acids (β=0.062). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092932 ## rs60069508 (BMP8A) Source: https://orviva.ai/learn/snps/rs60069508 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Phospholipids to Total Lipids in Large VLDL percentage (β=0.030). [GWAS Catalog] - **GG** (typical): G allele associated with increased Ratio of monounsaturated fatty acids to total fatty acids (β=0.033). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501167 ## rs6011058 (ZGPAT) Source: https://orviva.ai/learn/snps/rs6011058 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.012). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Hand eczema (OR=0.18). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs6013578 (RPL36P1 - TSHZ2) Source: https://orviva.ai/learn/snps/rs6013578 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Waist-hip index (β=0.037). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.016). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs6016505 (TOP1) Source: https://orviva.ai/learn/snps/rs6016505 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Cholesteryl Esters in Small HDL (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Polyunsaturated fatty acid levels (β=0.024). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092939 ## rs6021276 (NFATC2) Source: https://orviva.ai/learn/snps/rs6021276 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.005). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.028). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs6025 (F5) Source: https://orviva.ai/learn/snps/rs6025 (curated, human-reviewed; category: Health risk; effect allele T) - **TT** (high): Factor V Leiden homozygous. 50-80x increased risk for venous thromboembolism (VTE). - **CT / TC** (elevated): Factor V Leiden heterozygous. 5-10x increased VTE risk. - **CC** (typical / lower): Normal Factor V. Typical clotting risk. References: PMID:7989264; ClinVar; OMIM:188055 ## rs602633 (CELSR2 - PSRC1) Source: https://orviva.ai/learn/snps/rs602633 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Low density lipoprotein cholesterol levels (OR=0.19). [GWAS Catalog] - **TT** (typical): T allele associated with increased Omega-6 fatty acids levels (UKB data field 23445) (β=0.057). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239657 ## rs6026576 (GNAS) Source: https://orviva.ai/learn/snps/rs6026576 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.014). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Comorbidity of gastric and duodenal ulcers (OR=0.16). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs6026578 (GNAS) Source: https://orviva.ai/learn/snps/rs6026578 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.013). [GWAS Catalog] - **GG** (typical): G allele associated with increased Serum uric acid levels (β=0.027). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs602662 (FUT2) Source: https://orviva.ai/learn/snps/rs602662 (curated, human-reviewed; category: Nutrition; effect allele A) - **AA** (increased): FUT2 non-secretor. Reduced vitamin B12 absorption from food. B12 supplementation recommended. - **GA / AG** (increased): FUT2 heterozygous. Slightly reduced B12 absorption. - **GG** (typical): Normal B12 absorption. References: PMID:19706858; GWAS Catalog ## rs6029626 (ZHX3 - ADI1P1) Source: https://orviva.ai/learn/snps/rs6029626 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Low density lipoprotein cholesterol levels (β=0.032). [GWAS Catalog] - **TT** (typical): T allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007141 ## rs603223 (FOLH1 - NOX4P1) Source: https://orviva.ai/learn/snps/rs603223 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **TT** (typical): T allele associated with increased Cholesterol to Total Lipids in Large VLDL percentage (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Putamen iron levels (R2* MRI) (β=0.046). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551870 ## rs603424 (PKD2L1) Source: https://orviva.ai/learn/snps/rs603424 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical): A allele associated with increased Saturated fatty acids to total fatty acids percentage (β=0.060). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.033). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs604723 (ARHGAP42) Source: https://orviva.ai/learn/snps/rs604723 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.54). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.005). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310294 ## rs6054200 (FGFR3P3 - CASC20) Source: https://orviva.ai/learn/snps/rs6054200 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Systolic blood pressure (OR=0.19). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.016). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020029 ## rs6054512 (BMP2 - LINC01428) Source: https://orviva.ai/learn/snps/rs6054512 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.011). [GWAS Catalog] - **TT** (typical): T allele associated with increased Spherical equivalent (β=0.080). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs6058322 (PHF20) Source: https://orviva.ai/learn/snps/rs6058322 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.032). [GWAS Catalog] - **AA** (typical): A allele associated with increased Phospholipids in very small VLDL (β=0.036). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302158 ## rs6058874 (DNMT3B) Source: https://orviva.ai/learn/snps/rs6058874 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Male-pattern baldness (β=0.018). [GWAS Catalog] - **AA** (typical): A allele associated with increased Psoriasis (β=0.061). [GWAS Catalog] References: PMID:39885523; GWAS Catalog; GCST90565134 ## rs6063046 (EYA2) Source: https://orviva.ai/learn/snps/rs6063046 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Triglyceride levels (MTAG) (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Linoleic acid percentage of total fatty acids (β=0.021). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179149 ## rs6065906 (PLTP - PCIF1) Source: https://orviva.ai/learn/snps/rs6065906 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Phospholipids to total lipids ratio in large HDL (OR=0.17). [GWAS Catalog] - **CC** (typical): C allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.050). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501219 ## rs6073958 (PLTP - PCIF1) Source: https://orviva.ai/learn/snps/rs6073958 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Phospholipids in small HDL (OR=0.19). [GWAS Catalog] - **CC** (typical): C allele associated with increased Polyunsaturated fatty acids to monounsaturated fatty acids ratio (β=0.050). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501230 ## rs6073971 (ZNF335) Source: https://orviva.ai/learn/snps/rs6073971 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with increased Linoleic acid to total fatty acids percentage (β=0.040). [GWAS Catalog] - **CC** (typical): C allele associated with increased Phospholipid levels in IDL (β=0.046). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092839 ## rs6073972 (ZNF335) Source: https://orviva.ai/learn/snps/rs6073972 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **CC** (typical / lower): C allele associated with decreased risk of Total lipids in medium HDL (OR=0.10). [GWAS Catalog] - **GG** (typical): G allele associated with increased Linoleic acid percentage of total fatty acids (β=0.049). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454486 ## rs60764613 (LINC00470 - AIDAP3) Source: https://orviva.ai/learn/snps/rs60764613 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.011). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs60856912 (BPTF) Source: https://orviva.ai/learn/snps/rs60856912 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (typical): G allele associated with increased Depression (β=0.026). [GWAS Catalog] - **TT** (typical): T allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.027). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454484 ## rs6088728 (EDEM2) Source: https://orviva.ai/learn/snps/rs6088728 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (increased): T allele associated with increased Height (β=0.034). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Ulcerative colitis (OR=1.12). [GWAS Catalog] References: PMID:37262302; GWAS Catalog; GCST90301322 ## rs6119628 (FER1L4) Source: https://orviva.ai/learn/snps/rs6119628 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.030). [GWAS Catalog] - **AA** (typical): A allele associated with increased Spherical equivalent (β=0.080). [GWAS Catalog] References: PMID:32352494; GWAS Catalog; GCST010378 ## rs6123685 (BMP7) Source: https://orviva.ai/learn/snps/rs6123685 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased HDL cholesterol levels (β=0.016). [GWAS Catalog] - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.005). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs6129778 (ZHX3) Source: https://orviva.ai/learn/snps/rs6129778 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.012). [GWAS Catalog] - **CC** (typical): C allele associated with increased Total cholesterol levels (1KG-JEWEL7K) (β=0.025). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012106 ## rs6134038 (LINC01752) Source: https://orviva.ai/learn/snps/rs6134038 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.028). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs61373376 (GIPR) Source: https://orviva.ai/learn/snps/rs61373376 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of BMI (standard GWA) (OR=0.13). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.082). [GWAS Catalog] References: PMID:39379762; GWAS Catalog; GCST90444202 ## rs6141600 (EPB41L1) Source: https://orviva.ai/learn/snps/rs6141600 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.039). [GWAS Catalog] - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.027). [GWAS Catalog] References: PMID:40645996; GWAS Catalog; GCST90624412 ## rs61431557 (RPS10P13 - SNRPC) Source: https://orviva.ai/learn/snps/rs61431557 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.061). [GWAS Catalog] - **CC** (typical): C allele associated with increased Pallidum iron levels (R2* MRI) (β=0.056). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs61528732 (ARHGEF12) Source: https://orviva.ai/learn/snps/rs61528732 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Systolic blood pressure (β=0.022). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Height (standard GWA) (OR=0.31). [GWAS Catalog] References: PMID:37106081; GWAS Catalog; GCST90267284 ## rs615632 (MIR124-1HG - MSRA-DT) Source: https://orviva.ai/learn/snps/rs615632 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.015). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.33). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132903 ## rs61572747 (RNA5SP443 - ARHGAP27) Source: https://orviva.ai/learn/snps/rs61572747 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Systolic blood pressure (MTAG) (β=0.014). [GWAS Catalog] - **AA** (high): A allele associated with substantially increased risk of General cognitive ability (OR=5.73). [GWAS Catalog] References: PMID:39537608; GWAS Catalog; GCST90449056 ## rs61578424 (CACNA2D3) Source: https://orviva.ai/learn/snps/rs61578424 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.012). [GWAS Catalog] - **TT** (increased): T allele associated with increased Educational attainment (β=0.010). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs616523 (USH2A) Source: https://orviva.ai/learn/snps/rs616523 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs61739424 (COL23A1) Source: https://orviva.ai/learn/snps/rs61739424 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Prostate cancer (OR=1.09). [GWAS Catalog] - **AA** (increased): A allele associated with increased Male-pattern baldness (β=0.042). [GWAS Catalog] References: PMID:37945903; GWAS Catalog; GCST90274713 ## rs61742245 (VKORC1) Source: https://orviva.ai/learn/snps/rs61742245 (imported from public databases, not individually reviewed; category: Drug response) - **AC** (typical): Genotype AC is associated with increased dose of warfarin in people with warfarin maintenance treatment as compared to genotype CC. - **A** (typical): Allele A is associated with increased dose of warfarin as compared to allele C. References: PharmGKB ## rs61754230 (RAB21) Source: https://orviva.ai/learn/snps/rs61754230 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.042). [GWAS Catalog] - **TT** (typical): T allele associated with increased Low density lipoprotein cholesterol levels (β=0.049). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs61755050 (NR1H4) Source: https://orviva.ai/learn/snps/rs61755050 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Sex hormone-binding globulin levels adjusted for BMI (OR=0.12). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of MELTF protein levels (OR=0.28). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs61765650 (LINC02796) Source: https://orviva.ai/learn/snps/rs61765650 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.016). [GWAS Catalog] - **AA** (typical): A allele associated with increased Overweight, obesity and other hyperalimentation (PheCode 278) (β=0.056). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs61777140 (USP33 - ACTG1P21) Source: https://orviva.ai/learn/snps/rs61777140 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Total cholesterol levels (β=0.021). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.010). [GWAS Catalog] References: PMID:36333282; GWAS Catalog; GCST90244008 ## rs61781371 (PABPC4 - HEYL) Source: https://orviva.ai/learn/snps/rs61781371 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Triglyceride to phosphoglyceride ratio (β=0.030). [GWAS Catalog] - **CC** (typical): C allele associated with increased Ratio of polyunsaturated fatty acids to monounsaturated fatty acids (β=0.032). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501273 ## rs61813293 (UBQLN4) Source: https://orviva.ai/learn/snps/rs61813293 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.046). [GWAS Catalog] - **TT** (typical): T allele associated with increased Serum urate levels (β=0.030). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319906 ## rs61813324 (MEX3A) Source: https://orviva.ai/learn/snps/rs61813324 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.026). [GWAS Catalog] - **TT** (typical): T allele associated with increased High-density lipoprotein levels (β=0.026). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662894 ## rs61823192 (LYPLAL1-DT) Source: https://orviva.ai/learn/snps/rs61823192 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Hip index (β=0.082). [GWAS Catalog] - **CC** (typical): C allele associated with increased diastolic blood pressure (DBP, mean, inv-normal transformed) (β=0.058). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020026 ## rs61876729 (GATD1-DT) Source: https://orviva.ai/learn/snps/rs61876729 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Low density lipoprotein cholesterol levels (β=0.020). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.027). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs61884030 (RRAS2 - COPB1) Source: https://orviva.ai/learn/snps/rs61884030 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Hip index (β=0.029). [GWAS Catalog] - **TT** (typical): T allele associated with increased HDL cholesterol levels (β=0.018). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs61884449 (NRXN2) Source: https://orviva.ai/learn/snps/rs61884449 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.020). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs61894507 (EMSY) Source: https://orviva.ai/learn/snps/rs61894507 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Type 2 diabetes (β=0.035). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.008). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs61896141 (TMEM258) Source: https://orviva.ai/learn/snps/rs61896141 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (typical): C allele associated with marginally increased risk of Blond vs. brown/black hair color (OR=1.09). [GWAS Catalog] - **GG** (typical): G allele associated with increased Fatty acid(20:3)_[M-H]1- levels (β=0.077). [GWAS Catalog] References: PMID:30531825; GWAS Catalog; GCST006988 ## rs61902812 (DRD2 - TMPRSS5) Source: https://orviva.ai/learn/snps/rs61902812 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (high): A allele associated with substantially increased risk of Alcohol use disorder (OR=5.59). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Smoking cessation (OR=1.06). [GWAS Catalog] References: PMID:33082346; GWAS Catalog; GCST011702 ## rs61903695 (NAALAD2) Source: https://orviva.ai/learn/snps/rs61903695 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Adult body size (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with increased Serum uric acid levels (β=0.012). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018977 ## rs61929307 (CCT2 - LRRC10) Source: https://orviva.ai/learn/snps/rs61929307 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with increased Atrial fibrillation and flutter (PheCode 427.2) (β=0.050). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs61938963 (RPS26 - ERBB3) Source: https://orviva.ai/learn/snps/rs61938963 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with marginally increased risk of Hypothyroidism (OR=1.08). [GWAS Catalog] - **CC** (increased): C allele associated with increased Cognitive function (baseline) (β=0.013). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565836 ## rs61973461 (CDC16) Source: https://orviva.ai/learn/snps/rs61973461 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Standing height (UKB data field 50) (β=0.017). [GWAS Catalog] - **TT** (typical): T allele associated with increased systolic blood pressure (SBP, mean, inv-normal transformed) (β=0.031). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs61974485 (ARID4A) Source: https://orviva.ai/learn/snps/rs61974485 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Cholesteryl Esters in Small HDL (β=0.020). [GWAS Catalog] - **TT** (high): T allele associated with substantially increased risk of Alcohol use disorder (OR=5.50). [GWAS Catalog] References: PMID:32451486; GWAS Catalog; GCST010545 ## rs61992671 (MEG9, MIR412) Source: https://orviva.ai/learn/snps/rs61992671 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.033). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.036). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475153 ## rs62007299 (PEAK1) Source: https://orviva.ai/learn/snps/rs62007299 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Type 2 diabetes with neurological manifestations (PheCode 250.24) (β=0.053). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum 25-Hydroxyvitamin D levels (β=0.014). [GWAS Catalog] References: PMID:32059762; GWAS Catalog; GCST010144 ## rs62020698 (UBR1) Source: https://orviva.ai/learn/snps/rs62020698 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Triglycerides (β=0.046). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (β=0.018). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018959 ## rs62033408 (FTO) Source: https://orviva.ai/learn/snps/rs62033408 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (high): A allele associated with substantially increased risk of Alcohol use disorder (consumption score) (OR=9.08). [GWAS Catalog] - **GG** (typical): G allele associated with increased Systolic blood pressure (β=0.038). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662883 ## rs62048402 (FTO) Source: https://orviva.ai/learn/snps/rs62048402 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Hypertension (PheCode 401) (β=0.085). [GWAS Catalog] - **AA** (typical): A allele associated with increased Drinks per week (β=0.011). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs62064594 (RNA5SP443 - ARHGAP27) Source: https://orviva.ai/learn/snps/rs62064594 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.014). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Alcohol frequency weekly (standard GWA) (OR=0.21). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs62071306 (TBX2-AS1) Source: https://orviva.ai/learn/snps/rs62071306 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (typical): C allele associated with increased Calcium levels (UKB data field 30680) (β=0.021). [GWAS Catalog] - **AA** (typical): A allele associated with increased eGFR in diabetes mellitus (loose) kidney healthy controls (full adjustment) (β=0.062). [GWAS Catalog] References: PMID:40323663; GWAS Catalog; GCST90624793 ## rs62092069 (RIT2 - SYT4) Source: https://orviva.ai/learn/snps/rs62092069 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased HDL cholesterol levels (β=0.013). [GWAS Catalog] - **AA** (typical): A allele associated with increased Alcohol consumption (drinks per week) (β=0.015). [GWAS Catalog] References: PMID:30679032; GWAS Catalog; GCST008811 ## rs62100776 (DCC) Source: https://orviva.ai/learn/snps/rs62100776 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] - **AA** (high): A allele associated with substantially increased risk of Depression (OR=5.66). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs62106258 (LINC01865) Source: https://orviva.ai/learn/snps/rs62106258 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.086). [GWAS Catalog] - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.080). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs62107261 (LINC01865) Source: https://orviva.ai/learn/snps/rs62107261 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.025). [GWAS Catalog] - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.080). [GWAS Catalog] References: PMID:40645996; GWAS Catalog; GCST90624412 ## rs62132550 (STRN) Source: https://orviva.ai/learn/snps/rs62132550 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Heart failure (β=0.031). [GWAS Catalog] - **TT** (slightly elevated): T allele associated with slightly increased risk of Corpus callosum genu area (OR=1.35). [GWAS Catalog] References: PMID:41188267; GWAS Catalog; GCST90672011 ## rs62155873 (C2orf49 - FHL2) Source: https://orviva.ai/learn/snps/rs62155873 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.012). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs62157778 (EIF2AK3) Source: https://orviva.ai/learn/snps/rs62157778 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased T1 FreeSurfer aseg lhCerebralWhiteMatterVol (β=0.067). [GWAS Catalog] - **GG** (typical): G allele associated with increased Thalamus iron levels (R2* MRI) (β=0.043). [GWAS Catalog] References: PMID:38811844; GWAS Catalog; GCST90384185 ## rs62172472 (CALCRL-AS1) Source: https://orviva.ai/learn/snps/rs62172472 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased A body shape index (β=0.030). [GWAS Catalog] - **GG** (typical): G allele associated with increased White matter hyperintensity volume (adjusted for hypertension) (β=0.046). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020024 ## rs62217799 (ZGPAT) Source: https://orviva.ai/learn/snps/rs62217799 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with increased Phospholipids to Total Lipids in Medium HDL percentage (β=0.020). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs62244884 (FOXP1) Source: https://orviva.ai/learn/snps/rs62244884 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with increased Melanomas of skin, dx or hx (PheCode 172.1) (β=0.065). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs62246311 (SETD5) Source: https://orviva.ai/learn/snps/rs62246311 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.022). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.016). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs62260779 (MAP4) Source: https://orviva.ai/learn/snps/rs62260779 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.23). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.012). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs62262671 (BSN) Source: https://orviva.ai/learn/snps/rs62262671 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (years of education) (β=0.021). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Prostate cancer (OR=1.12). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006442 ## rs62334820 (GPM6A) Source: https://orviva.ai/learn/snps/rs62334820 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **CC** (typical / lower): C allele associated with slightly decreased risk of Schizophrenia (OR=0.93). [GWAS Catalog] References: PMID:35396580; GWAS Catalog; GCST90128471 ## rs6234 (CAST, PCSK1) Source: https://orviva.ai/learn/snps/rs6234 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with marginally increased risk of Neuroendocrine convertase 1 level in Chronic kidney disease with hypertension... (OR=1.02). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.015). [GWAS Catalog] References: PMID:35870639; GWAS Catalog; GCST90233854 ## rs62368123 (NPR3 - LINC02120) Source: https://orviva.ai/learn/snps/rs62368123 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (baseline) (β=0.027). [GWAS Catalog] - **GG** (typical): G allele associated with increased Systolic blood pressure (MTAG) (β=0.018). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs62390615 (FOXC1 - GMDS) Source: https://orviva.ai/learn/snps/rs62390615 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Standing height (UKB data field 50) (β=0.013). [GWAS Catalog] - **AA** (typical): A allele associated with increased Coronary artery disease (β=0.055). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs62398607 (SAYSD1 - KCNK5) Source: https://orviva.ai/learn/snps/rs62398607 (imported from public databases, not individually reviewed; category: Drug response; effect allele C) - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.022). [GWAS Catalog] - **TT** (typical): T allele associated with increased Serum urate levels (β=0.020). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428446 ## rs62477735 (PMS2P3) Source: https://orviva.ai/learn/snps/rs62477735 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.006). [GWAS Catalog] - **AA** (typical): A allele associated with increased Atrial fibrillation and flutter (PheCode 427.2) (β=0.047). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs6258 (SHBG) Source: https://orviva.ai/learn/snps/rs6258 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.055). [GWAS Catalog] - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.087). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs62621812 (ZNF800) Source: https://orviva.ai/learn/snps/rs62621812 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.093). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of circulating leptin levels adjusted for BMI (OR=0.13). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs6265 (BDNF) Source: https://orviva.ai/learn/snps/rs6265 (curated, human-reviewed; category: Trait; effect allele T) - **TT** (typical / lower): BDNF Val66Met Met/Met. Reduced activity-dependent BDNF secretion; may affect memory and neuroplasticity. Common in East Asian populations. - **CT / TC** (typical / lower): BDNF Val/Met heterozygous. Intermediate BDNF secretion. - **CC** (typical / lower): BDNF Val/Val. Normal BDNF secretion; typical memory and learning capacity. References: PMID:12802784; OMIM:113505 ## rs629301 (CELSR2) Source: https://orviva.ai/learn/snps/rs629301 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Low density lipoprotein cholesterol levels (OR=0.18). [GWAS Catalog] - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.025). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007141 ## rs633045 (PPP2R1B - ALG9) Source: https://orviva.ai/learn/snps/rs633045 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Urate levels (β=0.026). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist circumference adjusted for body mass index (β=0.029). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020029 ## rs633695 (LIPC, ALDH1A2) Source: https://orviva.ai/learn/snps/rs633695 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Free cholesterol in very large HDL (UKB data field 23556) (OR=0.12). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total omega-3 fatty acid levels (β=0.084). [GWAS Catalog] References: PMID:35692035; GWAS Catalog; GCST90133362 ## rs634869 (LINC01625 - ATP5PBP6) Source: https://orviva.ai/learn/snps/rs634869 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Average diameter for VLDL particles (β=0.039). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.023). [GWAS Catalog] References: PMID:30575882; GWAS Catalog; GCST008733 ## rs638714 (USP1) Source: https://orviva.ai/learn/snps/rs638714 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **TT** (typical): T allele associated with increased LDL (standard GWA) (β=0.036). [GWAS Catalog] - **GG** (typical): G allele associated with increased Ratio of omega-3 fatty acids to total fatty acids (β=0.032). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092932 ## rs6413438 (CYP2C19) Source: https://orviva.ai/learn/snps/rs6413438 (curated, human-reviewed; category: Drug response; effect allele T) - **TT** (reduced): CYP2C19*10 homozygous (P227L). Decreased CYP2C19 function. - **CT / TC** (reduced): CYP2C19*10 carrier. Decreased function allele. - **CC** (typical): No CYP2C19*10 variant detected. References: CPIC; PharmVar ## rs6414946 (MIR9-2HG, TMEM161B-DT) Source: https://orviva.ai/learn/snps/rs6414946 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (increased): A allele associated with increased Educational attainment (β=0.014). [GWAS Catalog] - **CC** (typical): C allele associated with increased Omega-3 fatty acids to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501222 ## rs6420484 (TSPAN10, NPLOC4) Source: https://orviva.ai/learn/snps/rs6420484 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Eye color (OR=0.16). [GWAS Catalog] - **AA** (high): A allele associated with substantially increased risk of Spherical equivalent or myopia (age of diagnosis) (OR=5.94). [GWAS Catalog] References: PMID:29808027; GWAS Catalog; GCST006291 ## rs6426577 (CDC42BPA) Source: https://orviva.ai/learn/snps/rs6426577 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Diastolic blood pressure (β=0.011). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist circumference adjusted for body mass index (β=0.016). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018952 ## rs6445538 (STIMATE, STIMATE-MUSTN1) Source: https://orviva.ai/learn/snps/rs6445538 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] - **CC** (increased): C allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.017). [GWAS Catalog] References: PMID:30679032; GWAS Catalog; GCST008810 ## rs645040 (RPL31P23 - PCCB) Source: https://orviva.ai/learn/snps/rs645040 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Phospholipids to Total Lipids in Very Small VLDL percentage (β=0.050). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.016). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501327 ## rs6452785 (TMEM161B-DT) Source: https://orviva.ai/learn/snps/rs6452785 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.014). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.027). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007474 ## rs6460944 (MAD1L1) Source: https://orviva.ai/learn/snps/rs6460944 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.014). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.012). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs6464165 (PRKAG2) Source: https://orviva.ai/learn/snps/rs6464165 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.065). [GWAS Catalog] - **TT** (typical): T allele associated with increased Renal failure (PheCode 585) (β=0.087). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476118 ## rs646776 (CELSR2 - PSRC1) Source: https://orviva.ai/learn/snps/rs646776 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Low density lipoprotein cholesterol levels (OR=0.18). [GWAS Catalog] - **TT** (typical): T allele associated with increased Omega-6 fatty acids levels (β=0.086). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90301961 ## rs6470764 (CCDC26) Source: https://orviva.ai/learn/snps/rs6470764 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of height (minimum, inv-normal transformed) (OR=0.12). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Osteoarthritis (OR=0.97). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475365 ## rs6474609 (LINC03131) Source: https://orviva.ai/learn/snps/rs6474609 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.016). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs6480771 (SAMD8, DUSP13B, DUSP13B, DUSP13A) Source: https://orviva.ai/learn/snps/rs6480771 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Total lipids in very large HDL (β=0.010). [GWAS Catalog] - **TT** (increased): T allele associated with increased Noncognitive aspects of educational attainment (β=0.050). [GWAS Catalog] References: PMID:33414549; GWAS Catalog; GCST90011874 ## rs6488140 (ASS1P14 - SYT10) Source: https://orviva.ai/learn/snps/rs6488140 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (BMI, minimum, inv-normal transformed) (β=0.046). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Type 2 diabetes (OR=1.04). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475159 ## rs6494407 (USP3) Source: https://orviva.ai/learn/snps/rs6494407 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Free Cholesterol to Total Lipids in Medium VLDL percentage (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-hip index (β=0.018). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501211 ## rs6495182 (PTPN9) Source: https://orviva.ai/learn/snps/rs6495182 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.023). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.041). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs6499240 (NFAT5) Source: https://orviva.ai/learn/snps/rs6499240 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased triglyceride (mean, inv-norm transformed) (β=0.034). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.024). [GWAS Catalog] References: PMID:38538606; GWAS Catalog; GCST90428119 ## rs6501249 (USP36) Source: https://orviva.ai/learn/snps/rs6501249 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heart failure (MTAG) (β=0.007). [GWAS Catalog] References: PMID:41184235; GWAS Catalog; GCST90668013 ## rs650558 (MLX) Source: https://orviva.ai/learn/snps/rs650558 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.015). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.007). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs651007 (ABO - Y_RNA) Source: https://orviva.ai/learn/snps/rs651007 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Low density lipoprotein cholesterol levels (β=0.085). [GWAS Catalog] - **TT** (typical): T allele associated with increased Iron status biomarkers (ferritin levels) (β=0.050). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007141 ## rs653178 (ATXN2) Source: https://orviva.ai/learn/snps/rs653178 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with increased Cystatin C levels (β=0.068). [GWAS Catalog] - **CC** (typical): C allele associated with increased Diastolic blood pressure (MTAG) (β=0.047). [GWAS Catalog] References: PMID:39537608; GWAS Catalog; GCST90449057 ## rs653264 (IGHMBP2) Source: https://orviva.ai/learn/snps/rs653264 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Triglycerides to total lipids ratio in very large HDL (β=0.025). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.011). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302137 ## rs6545714 (LINC01122) Source: https://orviva.ai/learn/snps/rs6545714 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Type 2 diabetes (OR=1.04). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009004 ## rs6546096 (SERTAD2) Source: https://orviva.ai/learn/snps/rs6546096 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.021). [GWAS Catalog] - **GG** (typical): G allele associated with increased Polyunsaturated fatty acid levels (β=0.010). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs6546334 (LINC01812 - FBXL12P1) Source: https://orviva.ai/learn/snps/rs6546334 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.018). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Male-pattern baldness (OR=0.16). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs6548238 (LINC01875 - TMEM18) Source: https://orviva.ai/learn/snps/rs6548238 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.055). [GWAS Catalog] - **TT** (typical): T allele associated with increased Gout and other crystal arthrop (PheCode 274) (β=0.072). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479934 ## rs655720 (STAG1) Source: https://orviva.ai/learn/snps/rs655720 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Coronary artery disease (β=0.049). [GWAS Catalog] - **CC** (typical): C allele associated with increased Ratio of polyunsaturated fatty acids to monounsaturated fatty acids (β=0.030). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092940 ## rs658794 (DPF2) Source: https://orviva.ai/learn/snps/rs658794 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with marginally increased risk of Osteoarthritis (with total hip replacement) (OR=1.09). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.016). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs6593925 (RBBP5 - DSTYK) Source: https://orviva.ai/learn/snps/rs6593925 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Putamen iron levels (R2* MRI) (β=0.082). [GWAS Catalog] - **CC** (typical): C allele associated with increased Concentration of very large HDL particles (β=0.020). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551870 ## rs659418 (SERPINH1 - MAP6-AS1) Source: https://orviva.ai/learn/snps/rs659418 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Height (β=0.041). [GWAS Catalog] - **TT** (typical): T allele associated with increased Coronary artery disease (β=0.053). [GWAS Catalog] References: PMID:29212778; GWAS Catalog; GCST005194 ## rs6597649 (FIBCD1) Source: https://orviva.ai/learn/snps/rs6597649 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.023). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Insomnia (OR=1.03). [GWAS Catalog] References: PMID:30804565; GWAS Catalog; GCST007988 ## rs6602911 (GAS6, GAS6-AS1) Source: https://orviva.ai/learn/snps/rs6602911 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.024). [GWAS Catalog] - **CC** (typical): C allele associated with increased Total fatty acid levels (β=0.029). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092987 ## rs6606731 (UBE3B - MMAB) Source: https://orviva.ai/learn/snps/rs6606731 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (typical): A allele associated with marginally increased risk of Insomnia (OR=1.04). [GWAS Catalog] - **TT** (typical): T allele associated with increased Ratio of polyunsaturated fatty acids to total fatty acids (β=0.028). [GWAS Catalog] References: PMID:30804565; GWAS Catalog; GCST007988 ## rs663640 (RNU4-17P - MC4R) Source: https://orviva.ai/learn/snps/rs663640 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.050). [GWAS Catalog] - **TT** (increased): T allele associated with increased Age of smoking initiation (β=0.016). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs6638417 (HUWE1) Source: https://orviva.ai/learn/snps/rs6638417 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.033). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105039 ## rs665268 (MLX) Source: https://orviva.ai/learn/snps/rs665268 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Caudate iron levels (R2* MRI) (OR=0.12). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Type 2 diabetes (OR=1.04). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551864 ## rs66561220 (CDKN1B - APOLD1) Source: https://orviva.ai/learn/snps/rs66561220 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased systolic blood pressure (SBP, mean, inv-normal transformed) (β=0.026). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.021). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662886 ## rs6656611 (EPHA2-AS1 - ARHGEF19) Source: https://orviva.ai/learn/snps/rs6656611 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.015). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.012). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245844 ## rs6658257 (DR1) Source: https://orviva.ai/learn/snps/rs6658257 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Cholesterol to Total Lipids in Small HDL percentage (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.021). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501235 ## rs6667605 (TNFRSF14 - PRXL2B) Source: https://orviva.ai/learn/snps/rs6667605 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Body mass index (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Ulcerative colitis (OR=1.08). [GWAS Catalog] References: PMID:26192919; GWAS Catalog; GCST003045 ## rs6676150 (HMGN2P18 - KRTCAP2) Source: https://orviva.ai/learn/snps/rs6676150 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (typical): C allele associated with increased Calcium levels (UKB data field 30680) (β=0.024). [GWAS Catalog] - **GG** (typical): G allele associated with increased diastolic blood pressure (DBP, mean, inv-normal transformed) (β=0.021). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475255 ## rs6679677 (PTPN22) Source: https://orviva.ai/learn/snps/rs6679677 (curated, human-reviewed; category: Health risk; effect allele A) - **AA** (elevated): Increased risk for rheumatoid arthritis, type 1 diabetes, and other autoimmune conditions. - **AG / GA** (slightly elevated): Moderately increased autoimmune disease risk. - **GG** (typical / lower): Typical autoimmune risk. References: PMID:15208781; GWAS Catalog ## rs6683926 (LYPLAL1-AS1 - ZC3H11B) Source: https://orviva.ai/learn/snps/rs6683926 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Waist-hip index (β=0.046). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglyceride levels (MTAG) (β=0.024). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179149 ## rs668459 (LINC01625 - ATP5PBP6) Source: https://orviva.ai/learn/snps/rs668459 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Triglycerides to total lipids ratio in very large HDL (β=0.036). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.020). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90093015 ## rs6687430 (PEX14) Source: https://orviva.ai/learn/snps/rs6687430 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Hand grip strength (OR=0.14). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Asthma (OR=1.04). [GWAS Catalog] References: PMID:32296059; GWAS Catalog; GCST010042 ## rs66922415 (RNU4-17P - MC4R) Source: https://orviva.ai/learn/snps/rs66922415 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Serum urate levels (β=0.029). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.020). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018739 ## rs66978877 (PGPEP1) Source: https://orviva.ai/learn/snps/rs66978877 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] - **TT** (typical): T allele associated with increased Hypertension (β=0.066). [GWAS Catalog] References: PMID:30487518; GWAS Catalog; GCST007707 ## rs66989638 (ECRG4) Source: https://orviva.ai/learn/snps/rs66989638 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with marginally increased risk of Osteoarthritis (with total hip replacement) (OR=1.12). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.018). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs6700575 (DNM3, PIGC) Source: https://orviva.ai/learn/snps/rs6700575 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.024). [GWAS Catalog] - **AA** (typical): A allele associated with increased Primary open angle glaucoma (multi-trait analysis) (β=0.066). [GWAS Catalog] References: PMID:37386247; GWAS Catalog; GCST90310211 ## rs670318 (LINC00466) Source: https://orviva.ai/learn/snps/rs670318 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.027). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Cutaneous malignant melanoma (OR=1.16). [GWAS Catalog] References: PMID:32341527; GWAS Catalog; GCST010304 ## rs6704768 (GIGYF2) Source: https://orviva.ai/learn/snps/rs6704768 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Educational attainment (β=0.015). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Schizophrenia (OR=1.08). [GWAS Catalog] References: PMID:25056061; GWAS Catalog; GCST002539 ## rs6708784 (MIR4435-2HG) Source: https://orviva.ai/learn/snps/rs6708784 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Lymphoid leukemia (PheCode 204.1) (OR=0.23). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.008). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479831 ## rs671 (ALDH2) Source: https://orviva.ai/learn/snps/rs671 (curated, human-reviewed; category: Trait; effect allele A) - **AA** (typical / lower): ALDH2 deficient. Cannot metabolize acetaldehyde; severe alcohol flush reaction. Increased esophageal cancer risk with alcohol use. Common in East Asian populations. - **GA / AG** (typical / lower): Partial ALDH2 deficiency. Alcohol flush reaction likely. Moderate cancer risk with regular alcohol use. - **GG** (typical / lower): Normal ALDH2 function. Typical alcohol metabolism. References: PMID:20201926; OMIM:100650 ## rs6711254 (LINC01875 - TMEM18) Source: https://orviva.ai/learn/snps/rs6711254 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.016). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.015). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs6716898 (PLCL1) Source: https://orviva.ai/learn/snps/rs6716898 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Morningness (β=0.021). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Atrial fibrillation (OR=1.03). [GWAS Catalog] References: PMID:30804565; GWAS Catalog; GCST007983 ## rs6717858 (COBLL1) Source: https://orviva.ai/learn/snps/rs6717858 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Triglycerides in large LDL (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (age <50) (β=0.062). [GWAS Catalog] References: PMID:26426971; GWAS Catalog; GCST005957 ## rs6726122 (ZNF638) Source: https://orviva.ai/learn/snps/rs6726122 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.020). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Headache or glucose levels (OR=0.99). [GWAS Catalog] References: PMID:36808568; GWAS Catalog; GCST90281121 ## rs673335 (MOGAT2 - RN7SL786P) Source: https://orviva.ai/learn/snps/rs673335 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with increased Omega-3 fatty acid levels (β=0.068). [GWAS Catalog] - **CC** (typical): C allele associated with increased High density lipoprotein cholesterol levels (β=0.030). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239652 ## rs673548 (APOB) Source: https://orviva.ai/learn/snps/rs673548 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.082). [GWAS Catalog] - **GG** (typical): G allele associated with increased Ratio of polyunsaturated fatty acids to monounsaturated fatty acids (β=0.063). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092940 ## rs6737082 (ADCY3) Source: https://orviva.ai/learn/snps/rs6737082 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (age <50) (β=0.046). [GWAS Catalog] - **AA** (typical): A allele associated with increased High-density lipoprotein levels (β=0.012). [GWAS Catalog] References: PMID:26426971; GWAS Catalog; GCST005953 ## rs67376798 (DPYD) Source: https://orviva.ai/learn/snps/rs67376798 (imported from public databases, not individually reviewed; category: Drug response) - **AT** (typical / lower): Genotype AT is associated with decreased clearance of fluorouracil in people with Colorectal Neoplasms as compared to genotype TT. - **AA** (typical): Normal DPYD function at c.2846 position. - **TT** (increased): DPYD c.2846A>T homozygous. Significantly decreased enzyme function. References: PharmGKB ## rs67381177 (ZSCAN23 - COX11P1) Source: https://orviva.ai/learn/snps/rs67381177 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Fluid intelligence score (baseline) (β=0.037). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Lung cancer in ever smokers (OR=1.18). [GWAS Catalog] References: PMID:28604730; GWAS Catalog; GCST004749 ## rs67409736 (STAB1) Source: https://orviva.ai/learn/snps/rs67409736 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (increased): G allele associated with increased Waist-hip index (β=0.026). [GWAS Catalog] - **TT** (typical): T allele associated with increased Docosahexaenoic acid to total fatty acids percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501107 ## rs6741676 (SCHLAP1) Source: https://orviva.ai/learn/snps/rs6741676 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.032). [GWAS Catalog] - **AA** (increased): A allele associated with increased Educational attainment (β=0.006). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs6741949 (DPP4) Source: https://orviva.ai/learn/snps/rs6741949 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Intelligence (MTAG) (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Asthma (OR=1.04). [GWAS Catalog] References: PMID:32296059; GWAS Catalog; GCST010042 ## rs6741951 (LINC01122) Source: https://orviva.ai/learn/snps/rs6741951 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Serum urate levels (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with increased 25-hydroxyvitamin D levels (skin colour stratified) (β=0.014). [GWAS Catalog] References: PMID:37963177; GWAS Catalog; GCST90448682 ## rs67472071 (SPI1) Source: https://orviva.ai/learn/snps/rs67472071 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Free cholesterol levels in small HDL (β=0.028). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092948 ## rs6751553 (C2orf76) Source: https://orviva.ai/learn/snps/rs6751553 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased Putamen iron levels (R2* MRI) (β=0.075). [GWAS Catalog] - **GG** (increased): G allele associated with increased IDP SWI T2star right putamen (β=0.066). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551870 ## rs6751993 (LINC01875 - TMEM18) Source: https://orviva.ai/learn/snps/rs6751993 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.075). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cholesterol to Total Lipids in Large LDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501147 ## rs6754311 (DARS1) Source: https://orviva.ai/learn/snps/rs6754311 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (slightly elevated): C allele associated with slightly increased risk of Lactase-phlorizin hydrolase level in Chronic kidney disease with hypertension... (OR=1.33). [GWAS Catalog] - **TT** (typical): T allele associated with increased Free cholesterol in very large HDL (β=0.032). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302130 ## rs6762208 (SENP2) Source: https://orviva.ai/learn/snps/rs6762208 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Body mass index (β=0.011). [GWAS Catalog] - **AA** (typical): A allele associated with increased Diastolic blood pressure (β=0.013). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662909 ## rs6762578 (COPG1) Source: https://orviva.ai/learn/snps/rs6762578 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of height (mean, inv-normal transformed) (OR=0.10). [GWAS Catalog] - **AA** (typical): A allele associated with increased Type 2 diabetes (β=0.033). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs6762851 (TASOR) Source: https://orviva.ai/learn/snps/rs6762851 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.017). [GWAS Catalog] - **TT** (typical): T allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.021). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018959 ## rs67631072 (FHL3) Source: https://orviva.ai/learn/snps/rs67631072 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Male-pattern baldness (β=0.024). [GWAS Catalog] - **TT** (typical): T allele associated with increased Primary open angle glaucoma (multi-trait analysis) (β=0.053). [GWAS Catalog] References: PMID:30573740; GWAS Catalog; GCST007020 ## rs676388 (FUT2 - MAMSTR) Source: https://orviva.ai/learn/snps/rs676388 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Drinks per week (β=0.013). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.21). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs6763931 (ZBTB38) Source: https://orviva.ai/learn/snps/rs6763931 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.071). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Atrial fibrillation (OR=1.03). [GWAS Catalog] References: PMID:40050429; GWAS Catalog; GCST90559230 ## rs6769511 (IGF2BP2) Source: https://orviva.ai/learn/snps/rs6769511 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.015). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.009). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs6772177 (NISCH) Source: https://orviva.ai/learn/snps/rs6772177 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Serum urate levels (β=0.035). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.011). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012106 ## rs6773655 (MECOM) Source: https://orviva.ai/learn/snps/rs6773655 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Urate levels (UKB data field 30880) (β=0.017). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (baseline) (β=0.011). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468107 ## rs6774721 (USP4 - GPX1) Source: https://orviva.ai/learn/snps/rs6774721 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (high): A allele associated with substantially increased risk of Intelligence (OR=7.12). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.25). [GWAS Catalog] References: PMID:30224653; GWAS Catalog; GCST006624 ## rs6784615 (NISCH) Source: https://orviva.ai/learn/snps/rs6784615 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Putamen iron levels (R2* MRI) (OR=0.14). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-hip ratio (β=0.040). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551870 ## rs6792725 (THRB) Source: https://orviva.ai/learn/snps/rs6792725 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.015). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.017). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs6795735 (ADAMTS9-AS2) Source: https://orviva.ai/learn/snps/rs6795735 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.15). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-hip ratio (β=0.030). [GWAS Catalog] References: PMID:20935629; GWAS Catalog; GCST000829 ## rs679574 (FUT2) Source: https://orviva.ai/learn/snps/rs679574 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (typical): G allele associated with increased Cholesterol levels (UKB data field 30690) (β=0.031). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Other vitamin B12 deficiency anemia (PheCode 281.12) (OR=0.17). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479962 ## rs67981189 (PCNX1) Source: https://orviva.ai/learn/snps/rs67981189 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.021). [GWAS Catalog] - **AA** (increased): A allele associated with increased Educational attainment (β=0.007). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs67981690 (SLCO1B1) Source: https://orviva.ai/learn/snps/rs67981690 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Triglycerides in medium VLDL (β=0.040). [GWAS Catalog] - **AA** (typical): A allele associated with increased Ratio of monounsaturated fatty acids to total fatty acids (β=0.039). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302056 ## rs68030304 (SND1) Source: https://orviva.ai/learn/snps/rs68030304 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Drinks per week (β=0.007). [GWAS Catalog] - **AA** (increased): A allele associated with increased Insomnia (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs6806083 (MCCC1) Source: https://orviva.ai/learn/snps/rs6806083 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Plasma beta-hydroxyisovalerate levels in chronic kidney disease (β=0.077). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.043). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255622 ## rs68161338 (WWP2) Source: https://orviva.ai/learn/snps/rs68161338 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (β=0.021). [GWAS Catalog] - **TT** (typical): T allele associated with increased Cataracts (β=0.043). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479643 ## rs6822892 (PDGFC) Source: https://orviva.ai/learn/snps/rs6822892 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.014). [GWAS Catalog] - **AA** (increased): A allele associated with increased Gluteofemoral adipose tissue volumes (adjusted for BMI and height) (β=0.054). [GWAS Catalog] References: PMID:35773277; GWAS Catalog; GCST90205205 ## rs6825776 (FAM13A) Source: https://orviva.ai/learn/snps/rs6825776 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.022). [GWAS Catalog] - **AA** (typical): A allele associated with increased Cholesteryl esters to total lipids ratio in large HDL (β=0.027). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs6830062 (LCORL) Source: https://orviva.ai/learn/snps/rs6830062 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (high): T allele associated with substantially increased risk of Height (OR=6.30). [GWAS Catalog] - **CC** (typical): C allele associated with increased Systolic blood pressure (MTAG) (β=0.013). [GWAS Catalog] References: PMID:18391951; GWAS Catalog; GCST000175 ## rs6831020 (LINC02260 - KIT) Source: https://orviva.ai/learn/snps/rs6831020 (imported from public databases, not individually reviewed; category: Drug response; effect allele A) - **CC** (increased): C allele associated with increased Body mass index (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with increased Cystatin C levels (β=0.018). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019504 ## rs684214 (NAGLU - HSD17B1P1) Source: https://orviva.ai/learn/snps/rs684214 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of IDP SWI T2star right putamen (OR=0.14). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.042). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs6853156 (REST) Source: https://orviva.ai/learn/snps/rs6853156 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased height (mean, inv-normal transformed) (β=0.049). [GWAS Catalog] - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.036). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479635 ## rs6853254 (RBPJ) Source: https://orviva.ai/learn/snps/rs6853254 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cholesterol to Total Lipids in Small VLDL percentage (β=0.010). [GWAS Catalog] References: PMID:30575882; GWAS Catalog; GCST008733 ## rs6857 (LNCOB1, NECTIN2) Source: https://orviva.ai/learn/snps/rs6857 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Dementias (PheCode 290.1) (OR=0.55). [GWAS Catalog] - **TT** (elevated): T allele associated with moderately increased risk of Brain amyloid deposition (PET imaging) (OR=1.67). [GWAS Catalog] References: PMID:32568366; GWAS Catalog; GCST010650 ## rs6859 (NECTIN2) Source: https://orviva.ai/learn/snps/rs6859 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Total cholesterol levels (β=0.079). [GWAS Catalog] - **AA** (increased): A allele associated with increased Aging (β=0.008). [GWAS Catalog] References: PMID:37550455; GWAS Catalog; GCST90321079 ## rs686030 (TTC39B) Source: https://orviva.ai/learn/snps/rs686030 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Phospholipids to Total Lipids in Large LDL percentage (β=0.080). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.010). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs6861681 (CPEB4) Source: https://orviva.ai/learn/snps/rs6861681 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.029). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.012). [GWAS Catalog] References: PMID:30575882; GWAS Catalog; GCST008733 ## rs6866758 (HAVCR1) Source: https://orviva.ai/learn/snps/rs6866758 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.053). [GWAS Catalog] - **CC** (typical): C allele associated with increased Ratio of polyunsaturated fatty acids to monounsaturated fatty acids (β=0.030). [GWAS Catalog] References: PMID:39414775; GWAS Catalog; GCST90448631 ## rs687339 (RPL31P23 - PCCB) Source: https://orviva.ai/learn/snps/rs687339 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.027). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglycerides in IDL (β=0.040). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501131 ## rs6877546 (LINC01843 - RN7SL541P) Source: https://orviva.ai/learn/snps/rs6877546 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.030). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.010). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs6878122 (ZBED3-AS1, PDE8B, PDE8B) Source: https://orviva.ai/learn/snps/rs6878122 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.055). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.013). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008994 ## rs687914 (PRKCE) Source: https://orviva.ai/learn/snps/rs687914 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.022). [GWAS Catalog] - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.021). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428448 ## rs689049 (CCBE1) Source: https://orviva.ai/learn/snps/rs689049 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Calcium levels (β=0.001). [GWAS Catalog] - **TT** (typical): T allele associated with increased Electrocardiogram morphology (amplitude at temporal datapoints) (β=0.031). [GWAS Catalog] References: PMID:32916098; GWAS Catalog; GCST010796 ## rs6897117 (SLC38A9) Source: https://orviva.ai/learn/snps/rs6897117 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (maximum, inv-normal transformed) (β=0.045). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.023). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs6900444 (HLA-C - USP8P1) Source: https://orviva.ai/learn/snps/rs6900444 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.024). [GWAS Catalog] - **CC** (typical): C allele associated with increased Familial combined hyperlipidemia defined by Dutch criteria (β=0.088). [GWAS Catalog] References: PMID:34906840; GWAS Catalog; GCST90104005 ## rs6908402 (H4C8 - H3C9P) Source: https://orviva.ai/learn/snps/rs6908402 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.036). [GWAS Catalog] - **AA** (typical): A allele associated with increased Polyunsaturated fatty acid levels (β=0.023). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092939 ## rs6908425 (CDKAL1) Source: https://orviva.ai/learn/snps/rs6908425 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Crohn's disease (OR=1.11). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.009). [GWAS Catalog] References: PMID:26192919; GWAS Catalog; GCST003044 ## rs6919440 (ZNF318 - ABCC10) Source: https://orviva.ai/learn/snps/rs6919440 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.025). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.28). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs6924424 (BMP6) Source: https://orviva.ai/learn/snps/rs6924424 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with slightly decreased risk of Osteoarthritis (with total hip replacement) (OR=0.93). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.027). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566802 ## rs6931604 (MIR2113 - EIF4EBP2P3) Source: https://orviva.ai/learn/snps/rs6931604 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (high): T allele associated with substantially increased risk of Intelligence (OR=8.61). [GWAS Catalog] - **CC** (typical): C allele associated with increased Spherical equivalent (β=0.080). [GWAS Catalog] References: PMID:29942086; GWAS Catalog; GCST006250 ## rs6935921 (LPA - PLG) Source: https://orviva.ai/learn/snps/rs6935921 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased Linoleic acid to total fatty acids percentage (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Free cholesterol levels in large LDL (β=0.029). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501171 ## rs6938026 (CUL9, CUL9-AS1) Source: https://orviva.ai/learn/snps/rs6938026 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Schizophrenia (OR=1.06). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs6938647 (LPA) Source: https://orviva.ai/learn/snps/rs6938647 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **CC** (typical): C allele associated with increased Phospholipids in small LDL (β=0.030). [GWAS Catalog] - **AA** (typical): A allele associated with increased Omega-6 fatty acids levels (UKB data field 23445) (β=0.045). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269542 ## rs6943555 (AUTS2) Source: https://orviva.ai/learn/snps/rs6943555 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.012). [GWAS Catalog] - **AA** (typical): A allele associated with increased Alcohol consumption (β=0.013). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs694739 (PRDX5 - CCDC88B) Source: https://orviva.ai/learn/snps/rs694739 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with marginally increased risk of Crohn's disease (OR=1.10). [GWAS Catalog] - **GG** (increased): G allele associated with increased Age of smoking initiation (MTAG) (β=0.009). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007462 ## rs6950388 (ZFAND2A-DT - UNCX) Source: https://orviva.ai/learn/snps/rs6950388 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.013). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Gout (OR=1.18). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs6968554 (AHR) Source: https://orviva.ai/learn/snps/rs6968554 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (high): A allele associated with substantially increased risk of Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trim... (OR=8.44). [GWAS Catalog] - **GG** (typical): G allele associated with increased High density lipoprotein cholesterol levels (β=0.013). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239652 ## rs6968865 (AHR) Source: https://orviva.ai/learn/snps/rs6968865 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of 1-methylurate levels (OR=0.11). [GWAS Catalog] - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.015). [GWAS Catalog] References: PMID:36357675; GWAS Catalog; GCST90244919 ## rs6970537 (HOXA10-HOXA9, HOXA10) Source: https://orviva.ai/learn/snps/rs6970537 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Endometriosis (OR=1.05). [GWAS Catalog] References: PMID:36914876; GWAS Catalog; GCST90258638 ## rs6971365 (KLF14 - LINC-PINT) Source: https://orviva.ai/learn/snps/rs6971365 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased HDL cholesterol (β=0.026). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.027). [GWAS Catalog] References: PMID:30275531; GWAS Catalog; GCST006611 ## rs6977081 (AOC1) Source: https://orviva.ai/learn/snps/rs6977081 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Height (β=0.026). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Urinary metabolite levels in chronic kidney disease (OR=0.38). [GWAS Catalog] References: PMID:31959995; GWAS Catalog; GCST009733 ## rs697852 (ITPKB) Source: https://orviva.ai/learn/snps/rs697852 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Calcium (mean, inv-norm transformed) (β=0.026). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Asthma (OR=1.05). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479530 ## rs6979354 (ASS1P11 - RNU1-15P) Source: https://orviva.ai/learn/snps/rs6979354 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Intelligence (MTAG) (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Spherical equivalent (β=0.070). [GWAS Catalog] References: PMID:32352494; GWAS Catalog; GCST010378 ## rs698015 (OTX2) Source: https://orviva.ai/learn/snps/rs698015 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs6982226 (LINC00536) Source: https://orviva.ai/learn/snps/rs6982226 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Male-pattern baldness (β=0.041). [GWAS Catalog] - **GG** (typical): G allele associated with increased Breast cancer subtype (triple negative vs luminal A-like) (β=0.022). [GWAS Catalog] References: PMID:28196072; GWAS Catalog; GCST006661 ## rs6982308 (MSRA) Source: https://orviva.ai/learn/snps/rs6982308 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Triglyceride levels (β=0.025). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.020). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010244 ## rs6983267 (8q24/MYC) Source: https://orviva.ai/learn/snps/rs6983267 (curated, human-reviewed; category: Health risk; effect allele G) - **GG** (slightly elevated): Increased risk for colorectal cancer. 8q24 region near MYC oncogene. - **GT / TG** (typical): Intermediate colorectal cancer risk. - **TT** (typical / lower): Lower colorectal cancer risk at this locus. References: PMID:17618284; GWAS Catalog ## rs6989119 (PLEC) Source: https://orviva.ai/learn/snps/rs6989119 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased What is your height? (cm, inv-normal transformed) (β=0.033). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total cholesterol levels (β=0.032). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662859 ## rs6993770 (ZFPM2-AS1, ZFPM2) Source: https://orviva.ai/learn/snps/rs6993770 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (reduced): T allele associated with decreased risk of CST7 protein levels (OR=0.12). [GWAS Catalog] - **AA** (typical): A allele associated with increased Venous thromboembolism (β=0.083). [GWAS Catalog] References: PMID:36154123; GWAS Catalog; GCST90797304 ## rs7012891 (TRIB1AL) Source: https://orviva.ai/learn/snps/rs7012891 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Triglyceride levels (MTAG) (β=0.052). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.030). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs7014168 (PINX1, PINX1) Source: https://orviva.ai/learn/snps/rs7014168 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased triglyceride (mean, inv-norm transformed) (β=0.040). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.015). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480718 ## rs7018333 (UBXN2B - CYP7A1) Source: https://orviva.ai/learn/snps/rs7018333 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Saturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total triglycerides levels (β=0.027). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501271 ## rs7020564 (ZNF462) Source: https://orviva.ai/learn/snps/rs7020564 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.11). [GWAS Catalog] - **AA** (increased): A allele associated with increased Childhood body mass index (β=0.013). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs7020944 (PAPPA) Source: https://orviva.ai/learn/snps/rs7020944 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased height (mean, inv-normal transformed) (β=0.071). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Osteoarthritis (hip) (OR=0.94). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566798 ## rs7025486 (DAB2IP) Source: https://orviva.ai/learn/snps/rs7025486 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (slightly elevated): A allele associated with slightly increased risk of Abdominal aortic aneurysm (OR=1.21). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.009). [GWAS Catalog] References: PMID:20622881; GWAS Catalog; GCST000727 ## rs702814 (JAZF1) Source: https://orviva.ai/learn/snps/rs702814 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with slightly decreased risk of Osteoarthritis (with total hip replacement) (OR=0.94). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.029). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479521 ## rs7029718 (LINC03142) Source: https://orviva.ai/learn/snps/rs7029718 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (MTAG) (β=0.025). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.027). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006571 ## rs7030280 (PTCSC2) Source: https://orviva.ai/learn/snps/rs7030280 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Hypothyroidism (OR=0.21). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.012). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs7033487 (PAPPA) Source: https://orviva.ai/learn/snps/rs7033487 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.040). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Osteoarthritis (OR=1.03). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245843 ## rs703842 (METTL1, CYP27B1) Source: https://orviva.ai/learn/snps/rs703842 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (slightly elevated): A allele associated with slightly increased risk of Multiple sclerosis (OR=1.23). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.018). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245846 ## rs7039 (ARL6IP5) Source: https://orviva.ai/learn/snps/rs7039 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (typical): G allele associated with increased Serum uric acid levels (β=0.015). [GWAS Catalog] - **CC** (typical): C allele associated with increased magnesium (Mg, mean, inv-norm transformed) (β=0.032). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475480 ## rs7041 (GC) Source: https://orviva.ai/learn/snps/rs7041 (curated, human-reviewed; category: Nutrition; effect allele T) - **TT** (increased): GC Asp432Glu homozygous. Lower vitamin D binding protein affinity; may need higher vitamin D intake. - **GT / TG** (typical): Intermediate vitamin D binding capacity. - **GG** (typical): Normal vitamin D binding protein function. References: PMID:20541252; GWAS Catalog ## rs705696 (ERBB3) Source: https://orviva.ai/learn/snps/rs705696 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Hypothyroidism (β=0.069). [GWAS Catalog] - **GG** (increased): G allele associated with increased Noncognitive aspects of educational attainment (β=0.043). [GWAS Catalog] References: PMID:33414549; GWAS Catalog; GCST90011874 ## rs705699 (RAB5B) Source: https://orviva.ai/learn/snps/rs705699 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with marginally increased risk of Atopic dermatitis (OR=1.03). [GWAS Catalog] - **GG** (increased): G allele associated with increased Symbol digit substitution test performance (baseline) (β=0.020). [GWAS Catalog] References: PMID:37794016; GWAS Catalog; GCST90244787 ## rs7072776 (MLLT10 - DNAJC1) Source: https://orviva.ai/learn/snps/rs7072776 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.013). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Breast cancer (OR=1.05). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs7084402 (TFAM - BICC1) Source: https://orviva.ai/learn/snps/rs7084402 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.006). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Refractive error (OR=0.11). [GWAS Catalog] References: PMID:23396134; GWAS Catalog; GCST001858 ## rs7096937 (GPAM) Source: https://orviva.ai/learn/snps/rs7096937 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased HDL cholesterol levels in current drinkers (β=0.009). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.009). [GWAS Catalog] References: PMID:30698716; GWAS Catalog; GCST008085 ## rs7107356 (MTCH2 - AGBL2) Source: https://orviva.ai/learn/snps/rs7107356 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Systolic blood pressure (OR=0.39). [GWAS Catalog] - **AA** (typical): A allele associated with increased Calcium (maximum, inv-norm transformed) (β=0.024). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475173 ## rs7113219 (LINC02715, RDX) Source: https://orviva.ai/learn/snps/rs7113219 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.006). [GWAS Catalog] - **TT** (typical): T allele associated with increased Substantia nigra iron levels (quantitative susceptibility mapping) (β=0.056). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551871 ## rs7114037 (PCNX3) Source: https://orviva.ai/learn/snps/rs7114037 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Urate levels (β=0.043). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (additive genetic model) (β=0.029). [GWAS Catalog] References: PMID:30778226; GWAS Catalog; GCST007483 ## rs7114842 (HSD17B12) Source: https://orviva.ai/learn/snps/rs7114842 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs7116641 (MIR670HG - HSD17B12) Source: https://orviva.ai/learn/snps/rs7116641 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Hip circumference (UKB data field 49) (β=0.019). [GWAS Catalog] - **TT** (typical): T allele associated with increased Coronary artery disease (β=0.031). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468170 ## rs7123361 (EMSY) Source: https://orviva.ai/learn/snps/rs7123361 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.021). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Type ii diabetes (OR=1.04). [GWAS Catalog] References: PMID:35393509; GWAS Catalog; GCST90101836 ## rs71304101 (PPARG) Source: https://orviva.ai/learn/snps/rs71304101 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Triglycerides in large VLDL (β=0.030). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Gluteofemoral adipose tissue volumes (adjusted for BMI and height) (OR=0.11). [GWAS Catalog] References: PMID:35773277; GWAS Catalog; GCST90205214 ## rs7132012 (MFAP5 - RIMKLB) Source: https://orviva.ai/learn/snps/rs7132012 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.009). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.15). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs7132277 (PITPNM2) Source: https://orviva.ai/learn/snps/rs7132277 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.026). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Multiple sclerosis (OR=1.12). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs7132908 (FAIM2) Source: https://orviva.ai/learn/snps/rs7132908 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.068). [GWAS Catalog] - **AA** (typical): A allele associated with increased Drinks per week (β=0.010). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475153 ## rs7133378 (CCDC92, DNAH10) Source: https://orviva.ai/learn/snps/rs7133378 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.039). [GWAS Catalog] - **AA** (typical): A allele associated with increased High density lipoprotein cholesterol levels (β=0.037). [GWAS Catalog] References: PMID:33980691; GWAS Catalog; GCST90020233 ## rs71352238 (TOMM40) Source: https://orviva.ai/learn/snps/rs71352238 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Cerebral amyloid deposition (PET imaging) (OR=0.12). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Metabolic syndrome (OR=0.13). [GWAS Catalog] References: PMID:30361487; GWAS Catalog; GCST006904 ## rs713598 (TAS2R38) Source: https://orviva.ai/learn/snps/rs713598 (curated, human-reviewed; category: Trait; effect allele G) - **GG** (typical / lower): Strong bitter taster (PTC/PROP). May dislike cruciferous vegetables and certain medications. - **GC / CG** (typical / lower): Moderate bitter taste perception. - **CC** (typical / lower): Non-taster for PTC/PROP bitterness. References: PMID:12595690; OMIM:607751 ## rs7137828 (ATXN2) Source: https://orviva.ai/learn/snps/rs7137828 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.43). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (BMI, minimum, inv-normal transformed) (β=0.030). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs713875 (HORMAD2 - LIF-AS1) Source: https://orviva.ai/learn/snps/rs713875 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Standing height (UKB data field 50) (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Crohn's disease (OR=1.08). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs7138803 (BCDIN3D - RPL35AP28) Source: https://orviva.ai/learn/snps/rs7138803 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.027). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Obesity (OR=1.09). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs71390846 (FOXL1 - LINC02188) Source: https://orviva.ai/learn/snps/rs71390846 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.039). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.012). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018959 ## rs7144011 (NRXN3) Source: https://orviva.ai/learn/snps/rs7144011 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.034). [GWAS Catalog] - **TT** (typical): T allele associated with increased Type 2 diabetes (β=0.048). [GWAS Catalog] References: PMID:39375568; GWAS Catalog; GCST90446645 ## rs71457724 (MRPL11) Source: https://orviva.ai/learn/snps/rs71457724 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.055). [GWAS Catalog] - **AA** (typical): A allele associated with increased High-density lipoprotein levels (MTAG) (β=0.031). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs7145882 (TRAF3) Source: https://orviva.ai/learn/snps/rs7145882 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Adult body size (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglycerides to Total Lipids in Large HDL percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501145 ## rs71497076 (SCAI) Source: https://orviva.ai/learn/snps/rs71497076 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (increased): C allele associated with increased Smoking cessation (β=0.011). [GWAS Catalog] - **TT** (typical): T allele associated with increased Substantia nigra iron levels (R2* MRI) (β=0.047). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551872 ## rs715 (CPS1) Source: https://orviva.ai/learn/snps/rs715 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Urine 3-methylglutarate/2-methylglutarate levels in chronic kidney disease (OR=0.33). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.016). [GWAS Catalog] References: PMID:37277652; GWAS Catalog; GCST90264564 ## rs71538127 (COX19) Source: https://orviva.ai/learn/snps/rs71538127 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased Free Cholesterol to Total Lipids in Large LDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501151 ## rs71562509 (LINC01625 - ATP5PBP6) Source: https://orviva.ai/learn/snps/rs71562509 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglycerides to Total Lipids in Very Large HDL percentage (β=0.030). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.035). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501305 ## rs7156625 (NRXN3) Source: https://orviva.ai/learn/snps/rs7156625 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.015). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.053). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs71603401 (LCORL - LINC02438) Source: https://orviva.ai/learn/snps/rs71603401 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.026). [GWAS Catalog] - **GG** (typical): G allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501219 ## rs71627577 (ZNF131) Source: https://orviva.ai/learn/snps/rs71627577 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.016). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Atrial fibrillation (OR=1.04). [GWAS Catalog] References: PMID:40050429; GWAS Catalog; GCST90559230 ## rs71636776 (ARID1A) Source: https://orviva.ai/learn/snps/rs71636776 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.018). [GWAS Catalog] - **AA** (typical): A allele associated with increased Phospholipids to total lipids in very small VLDL percentage (UKB data field 2... (β=0.065). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269701 ## rs71640850 (LYPLAL1-AS1) Source: https://orviva.ai/learn/snps/rs71640850 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist circumference adjusted for body mass index (β=0.035). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglyceride levels in very large VLDL (β=0.031). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020029 ## rs7164727 (ADPGK-AS1 - NPM1P42) Source: https://orviva.ai/learn/snps/rs7164727 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.018). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.011). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs71658797 (AK5) Source: https://orviva.ai/learn/snps/rs71658797 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (increased): T allele associated with increased Height (baseline) (β=0.026). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Lung cancer (OR=1.11). [GWAS Catalog] References: PMID:39366959; GWAS Catalog; GCST90455518 ## rs7166287 (IGF1R) Source: https://orviva.ai/learn/snps/rs7166287 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical / lower): T allele associated with slightly decreased risk of Gout (OR=0.93). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Hyperuricemia in low folate intake (OR=1.17). [GWAS Catalog] References: PMID:40835619; GWAS Catalog; GCST90693181 ## rs7167767 (ABHD17C) Source: https://orviva.ai/learn/snps/rs7167767 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs7170463 (TYRO3 - MGA) Source: https://orviva.ai/learn/snps/rs7170463 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased HDL cholesterol levels (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.019). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs7170637 (CYFIP1) Source: https://orviva.ai/learn/snps/rs7170637 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.015). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.018). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs7173964 (NPM1P47 - C2CD4B) Source: https://orviva.ai/learn/snps/rs7173964 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Diabetes / "Sugar" (β=0.044). [GWAS Catalog] - **AA** (increased): A allele associated with increased Fasting blood glucose (BMI interaction) (β=0.000). [GWAS Catalog] References: PMID:22581228; GWAS Catalog; GCST001527 ## rs717605 (LINC01235 - LINC00583) Source: https://orviva.ai/learn/snps/rs717605 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Height (β=0.006). [GWAS Catalog] - **TT** (typical): T allele associated with increased Primary open angle glaucoma (multi-trait analysis) (β=0.044). [GWAS Catalog] References: PMID:37386247; GWAS Catalog; GCST90310211 ## rs7177289 (ALDH1A2) Source: https://orviva.ai/learn/snps/rs7177289 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Cholesterol to total lipids ratio in IDL (OR=0.15). [GWAS Catalog] - **TT** (typical): T allele associated with increased Monounsaturated fatty acids levels (UKB data field 23447) (β=0.073). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269544 ## rs7183988 (FES) Source: https://orviva.ai/learn/snps/rs7183988 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with marginally increased risk of Coronary artery disease (OR=1.06). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Insomnia (OR=1.04). [GWAS Catalog] References: PMID:30804565; GWAS Catalog; GCST007988 ## rs718700 (LYPLAL1-AS1) Source: https://orviva.ai/learn/snps/rs718700 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.052). [GWAS Catalog] - **TT** (typical): T allele associated with increased Cholesteryl Esters in Large HDL (β=0.020). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs7188873 (TNRC6A) Source: https://orviva.ai/learn/snps/rs7188873 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.010). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs7189927 (ATP2A1) Source: https://orviva.ai/learn/snps/rs7189927 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.027). [GWAS Catalog] - **TT** (typical): T allele associated with increased High-density lipoprotein levels (MTAG) (β=0.017). [GWAS Catalog] References: PMID:38538606; GWAS Catalog; GCST90428119 ## rs7192140 (GRIN2A) Source: https://orviva.ai/learn/snps/rs7192140 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.009). [GWAS Catalog] - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs7193144 (FTO) Source: https://orviva.ai/learn/snps/rs7193144 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (β=0.073). [GWAS Catalog] - **CC** (typical): C allele associated with increased Breast cancer (β=0.086). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018799 ## rs7201336 (ZKSCAN2-DT) Source: https://orviva.ai/learn/snps/rs7201336 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.013). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.012). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs7201780 (MAPK3 - CORO1A) Source: https://orviva.ai/learn/snps/rs7201780 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Rheumatoid arthritis (MTAG) (β=0.029). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs7202116 (FTO) Source: https://orviva.ai/learn/snps/rs7202116 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.036). [GWAS Catalog] - **AA** (typical): A allele associated with increased Metabolic syndrome (β=0.086). [GWAS Catalog] References: PMID:22982992; GWAS Catalog; GCST001676 ## rs7208565 (FN3K) Source: https://orviva.ai/learn/snps/rs7208565 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Glycated haemoglobin HbA1c levels adjusted for BMI (β=0.096). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (PheCode 250.2) (β=0.038). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479885 ## rs7214750 (CEP112) Source: https://orviva.ai/learn/snps/rs7214750 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (reduced): T allele associated with decreased risk of Angiostatin levels (OR=0.30). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Endometriosis (OR=1.09). [GWAS Catalog] References: PMID:36914876; GWAS Catalog; GCST90258638 ## rs7224610 (HLF) Source: https://orviva.ai/learn/snps/rs7224610 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Urate levels (β=0.028). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.006). [GWAS Catalog] References: PMID:33356394; GWAS Catalog; GCST011119 ## rs7224685 (ZZEF1) Source: https://orviva.ai/learn/snps/rs7224685 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (β=0.011). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Type 2 diabetes (OR=1.07). [GWAS Catalog] References: PMID:28566273; GWAS Catalog; GCST004773 ## rs7246440 (ZNF799) Source: https://orviva.ai/learn/snps/rs7246440 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.030). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs72552267 (CYP2C19) Source: https://orviva.ai/learn/snps/rs72552267 (curated, human-reviewed; category: Drug response; effect allele A) - **AA** (reduced): CYP2C19*6 homozygous (R132Q). Loss of CYP2C19 function; poor metabolizer of clopidogrel, PPIs, and SSRIs. - **GA / AG** (reduced): CYP2C19*6 carrier. One non-functional allele. - **GG** (typical): No CYP2C19*6 variant detected. References: CPIC; PharmVar ## rs7256200 (APOE - APOC1) Source: https://orviva.ai/learn/snps/rs7256200 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Total lipid levels in HDL (β=0.058). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Cerebral amyloid deposition (PET imaging) (OR=0.15). [GWAS Catalog] References: PMID:30361487; GWAS Catalog; GCST006904 ## rs7256735 (DOT1L) Source: https://orviva.ai/learn/snps/rs7256735 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Height (β=0.018). [GWAS Catalog] - **TT** (typical): T allele associated with increased Atrial fibrillation (β=0.056). [GWAS Catalog] References: PMID:40645996; GWAS Catalog; GCST90624412 ## rs7261425 (CFAP61) Source: https://orviva.ai/learn/snps/rs7261425 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.017). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Type ii diabetes (OR=1.04). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs72631105 (RPL19P16 - LINC01153) Source: https://orviva.ai/learn/snps/rs72631105 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.062). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Type 2 diabetes (adjusted for BMI) (OR=1.06). [GWAS Catalog] References: PMID:30297969; GWAS Catalog; GCST009380 ## rs72654473 (APOE - APOC1) Source: https://orviva.ai/learn/snps/rs72654473 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **CC** (typical / lower): C allele associated with decreased risk of triglyceride (maximum, inv-norm transformed) (OR=0.14). [GWAS Catalog] - **AA** (typical): A allele associated with increased Omega-6 fatty acids to omega-3 fatty acids ratio (β=0.060). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501224 ## rs72678859 (RNU6-289P - RPL36AP23) Source: https://orviva.ai/learn/snps/rs72678859 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.017). [GWAS Catalog] - **TT** (increased): T allele associated with increased Age when finished full-time education (standard GWA) (β=0.034). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs72698179 (UBE2Q1) Source: https://orviva.ai/learn/snps/rs72698179 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Standing height (UKB data field 50) (β=0.028). [GWAS Catalog] - **CC** (typical): C allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.042). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs72709458 (TERT) Source: https://orviva.ai/learn/snps/rs72709458 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (elevated): T allele associated with moderately increased risk of Glioblastoma (OR=1.68). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.006). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs72729610 (TRIM2) Source: https://orviva.ai/learn/snps/rs72729610 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.010). [GWAS Catalog] - **GG** (typical): G allele associated with increased HDL cholesterol levels in current drinkers (β=0.008). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs72740955 (PSMA4 - CHRNA5) Source: https://orviva.ai/learn/snps/rs72740955 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Takes medication for Chronic lung diseases including COPD, Emphysema and Bron... (OR=0.14). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking cessation (MTAG) (β=0.024). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007464 ## rs727428 (SHBG - ATP1B2) Source: https://orviva.ai/learn/snps/rs727428 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.016). [GWAS Catalog] - **CC** (typical): C allele associated with increased Cholesterol to Total Lipids in Large HDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501135 ## rs72749742 (VPS13C) Source: https://orviva.ai/learn/snps/rs72749742 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (BMI, mean, inv-normal transformed) (β=0.075). [GWAS Catalog] - **AA** (typical): A allele associated with increased Type 2 diabetes (β=0.056). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475156 ## rs72755295 (EXO1) Source: https://orviva.ai/learn/snps/rs72755295 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Breast cancer (OR=1.15). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.032). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662911 ## rs72773790 (QSOX2) Source: https://orviva.ai/learn/snps/rs72773790 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Spherical equivalent (β=0.070). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Insomnia (OR=1.04). [GWAS Catalog] References: PMID:30804565; GWAS Catalog; GCST007988 ## rs72789541 (PDXDC1) Source: https://orviva.ai/learn/snps/rs72789541 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical): T allele associated with increased Ratio of omega-3 fatty acids to total fatty acids (β=0.099). [GWAS Catalog] - **AA** (typical): A allele associated with increased Cholesterol to Total Lipids in Chylomicrons and Extremely Large VLDL percentage (β=0.020). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092932 ## rs727993 (LINC00536) Source: https://orviva.ai/learn/snps/rs727993 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Male-pattern baldness (β=0.030). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triglycerides to Total Lipids in Large LDL percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501157 ## rs7280 (MMP24, MMP24OS) Source: https://orviva.ai/learn/snps/rs7280 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.043). [GWAS Catalog] - **AA** (typical): A allele associated with increased Low-density lipoprotein levels (MTAG) (β=0.009). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs72801474 (HSPA4 - RPL6P15) Source: https://orviva.ai/learn/snps/rs72801474 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.062). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.029). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475352 ## rs728017 (NKAIN2) Source: https://orviva.ai/learn/snps/rs728017 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased Depression (β=0.019). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs72802342 (ZFP1 - CTRB2) Source: https://orviva.ai/learn/snps/rs72802342 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Type 2 diabetes (OR=0.12). [GWAS Catalog] - **AA** (typical): A allele associated with increased IFNGR2 protein levels (β=0.047). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs72805613 (FTO) Source: https://orviva.ai/learn/snps/rs72805613 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Atrial fibrillation (PheCode 427.21) (β=0.046). [GWAS Catalog] - **GG** (increased): G allele associated with increased BMI x meat diet interaction (β=0.043). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480168 ## rs72805692 (HK1) Source: https://orviva.ai/learn/snps/rs72805692 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Glycated haemoglobin HbA1c levels adjusted for BMI (OR=0.26). [GWAS Catalog] - **GG** (typical): G allele associated with increased Concentration of HDL particles (β=0.020). [GWAS Catalog] References: PMID:34951656; GWAS Catalog; GCST90094966 ## rs72813180 (MXD3, PRELID1) Source: https://orviva.ai/learn/snps/rs72813180 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.031). [GWAS Catalog] - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.016). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012226 ## rs72823592 (NFE2L1-DT) Source: https://orviva.ai/learn/snps/rs72823592 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.023). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Generalized epilepsy (OR=1.30). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs72836346 (MIR4435-2HG) Source: https://orviva.ai/learn/snps/rs72836346 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Phospholipids to total lipids ratio in large HDL (β=0.052). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.015). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012106 ## rs72836348 (BCL2L11, MIR4435-2HG) Source: https://orviva.ai/learn/snps/rs72836348 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical): A allele associated with increased Linoleic acid to total fatty acids percentage (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.056). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs72836561 (CD300LG) Source: https://orviva.ai/learn/snps/rs72836561 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of triglyceride (mean, inv-norm transformed) (OR=0.29). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Monounsaturated fatty acids to total fatty acids percentage (OR=0.13). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501219 ## rs72837816 (BCL2L11, MIR4435-2HG) Source: https://orviva.ai/learn/snps/rs72837816 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Phospholipids in small HDL (β=0.030). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.025). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008994 ## rs72842207 (BAG3) Source: https://orviva.ai/learn/snps/rs72842207 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.21). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.016). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs72854462 (TEX41) Source: https://orviva.ai/learn/snps/rs72854462 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Diastolic blood pressure (OR=0.22). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.010). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs72892910 (TFAP2B - RPS17P5) Source: https://orviva.ai/learn/snps/rs72892910 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.039). [GWAS Catalog] - **TT** (typical): T allele associated with increased Type 2 diabetes (β=0.065). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs72905558 (PTPRJ - OR4B1) Source: https://orviva.ai/learn/snps/rs72905558 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **TT** (typical / lower): T allele associated with slightly decreased risk of Lung cancer or family history of lung cancer (OR=0.91). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hand grip strength (baseline) (β=0.011). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565845 ## rs72921001 (OR6A2) Source: https://orviva.ai/learn/snps/rs72921001 (curated, human-reviewed; category: Trait; effect allele A) - **AA** (typical / lower): OR6A2 variant homozygous. Strong perception of soapy taste in cilantro/coriander. - **CA / AC** (typical / lower): OR6A2 carrier. May perceive soapy taste in cilantro. - **CC** (typical / lower): Normal cilantro taste perception. References: PMID:22927872 ## rs72928978 (TPCN2) Source: https://orviva.ai/learn/snps/rs72928978 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (slightly elevated): A allele associated with slightly increased risk of Brown vs. black hair color (OR=1.39). [GWAS Catalog] - **GG** (typical): G allele associated with increased Skin cancer (β=0.060). [GWAS Catalog] References: PMID:30531825; GWAS Catalog; GCST006989 ## rs72932523 (TPCN2 - SMIM38) Source: https://orviva.ai/learn/snps/rs72932523 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Blond vs. brown/black hair color (OR=0.45). [GWAS Catalog] - **AA** (typical): A allele associated with increased Breast cancer, ovarian cancer or prostate cancer (pleiotropy) (β=0.060). [GWAS Catalog] References: PMID:27432226; GWAS Catalog; GCST010797 ## rs7294 (VKORC1) Source: https://orviva.ai/learn/snps/rs7294 (imported from public databases, not individually reviewed; category: Drug response) - **T** (typical): Allele T is associated with increased dose of warfarin. - **C** (typical): Allele C is associated with decreased dose of warfarin as compared to allele T. - **CT** (typical): Genotype CT is associated with increased dose of warfarin as compared to genotype CC. - **TT** (typical): Genotype TT is associated with increased dose of warfarin as compared to genotypes CC + CT. - **CC** (typical): Genotype CC is associated with decreased concentrations of warfarin in people with heart valve replacement as compared to genotypes CT + TT. References: PharmGKB ## rs72951548 (NUS1 - SLC35F1) Source: https://orviva.ai/learn/snps/rs72951548 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Type 2 diabetes (β=0.063). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.011). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs72961007 (RSPO3 - RNF146) Source: https://orviva.ai/learn/snps/rs72961007 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.052). [GWAS Catalog] - **CC** (typical): C allele associated with increased High density lipoprotein cholesterol levels (β=0.053). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs72964564 (ADCY5) Source: https://orviva.ai/learn/snps/rs72964564 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical / lower): C allele associated with decreased risk of Type 2 diabetes (OR=0.10). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (baseline) (β=0.013). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs72979233 (POLD3) Source: https://orviva.ai/learn/snps/rs72979233 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Hand grip strength (OR=0.18). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of End-stage knee osteoarthritis (OR=1.09). [GWAS Catalog] References: PMID:36000784; GWAS Catalog; GCST90179469 ## rs72992015 (ARNT) Source: https://orviva.ai/learn/snps/rs72992015 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Phospholipids in small HDL (β=0.047). [GWAS Catalog] - **CC** (typical): C allele associated with increased Putamen iron levels (R2* MRI) (β=0.069). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551870 ## rs73002956 (GATAD2A) Source: https://orviva.ai/learn/snps/rs73002956 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Polyunsaturated fatty acids (OR=0.13). [GWAS Catalog] - **AA** (typical): A allele associated with increased Cholesteryl ester levels in very small VLDL (β=0.079). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90499299 ## rs73015021 (SMARCA4 - LDLR) Source: https://orviva.ai/learn/snps/rs73015021 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Triglycerides to total lipids ratio in very small VLDL (OR=0.11). [GWAS Catalog] - **GG** (typical): G allele associated with increased Serum 25-Hydroxyvitamin D levels (β=0.023). [GWAS Catalog] References: PMID:32059762; GWAS Catalog; GCST010144 ## rs7305242 (ALDH2 - MAPKAPK5-AS1) Source: https://orviva.ai/learn/snps/rs7305242 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Urate levels (β=0.047). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.021). [GWAS Catalog] References: PMID:28892062; GWAS Catalog; GCST004904 ## rs7306710 (HMGA2 - MIR6074) Source: https://orviva.ai/learn/snps/rs7306710 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Standing height (UKB data field 50) (β=0.038). [GWAS Catalog] - **TT** (typical): T allele associated with increased Systolic blood pressure (MTAG) (β=0.013). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs73078367 (LINC02585) Source: https://orviva.ai/learn/snps/rs73078367 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Intelligence (MTAG) (β=0.033). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Myocardial infarction (OR=1.08). [GWAS Catalog] References: PMID:33532862; GWAS Catalog; GCST011365 ## rs73079476 (SLCO1B1) Source: https://orviva.ai/learn/snps/rs73079476 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **CC** (typical): C allele associated with increased Triglycerides to Total Lipids in Very Small VLDL percentage (β=0.030). [GWAS Catalog] - **AA** (typical): A allele associated with increased Monounsaturated fatty acids (16:1, 18:1) levels (β=0.034). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302055 ## rs73094911 (MROH8) Source: https://orviva.ai/learn/snps/rs73094911 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (baseline) (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Basal cell carcinoma (OR=1.12). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs73104513 (MACROD2) Source: https://orviva.ai/learn/snps/rs73104513 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs73121277 (DDC) Source: https://orviva.ai/learn/snps/rs73121277 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.026). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.013). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs7313056 (MYO1H) Source: https://orviva.ai/learn/snps/rs7313056 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Phospholipids to Total Lipids in Large LDL percentage (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Educational attainment (β=0.009). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501155 ## rs731831 (STAB1) Source: https://orviva.ai/learn/snps/rs731831 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.013). [GWAS Catalog] - **AA** (typical): A allele associated with increased Low-density lipoprotein levels (β=0.010). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs73186030 (CASR - HNRNPA1P23) Source: https://orviva.ai/learn/snps/rs73186030 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Calcium (minimum, inv-norm transformed) (OR=0.14). [GWAS Catalog] - **TT** (typical): T allele associated with increased QT interval (β=0.045). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475179 ## rs7321688 (CDC16) Source: https://orviva.ai/learn/snps/rs7321688 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **AA** (typical): A allele associated with increased Diastolic blood pressure (MTAG) (β=0.015). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.009). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012106 ## rs73219806 (BNIP3L) Source: https://orviva.ai/learn/snps/rs73219806 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Educational attainment (β=0.012). [GWAS Catalog] - **CC** (typical / lower): C allele associated with slightly decreased risk of Schizophrenia (OR=0.93). [GWAS Catalog] References: PMID:35396580; GWAS Catalog; GCST90128471 ## rs73221948 (CDCA2 - EBF2) Source: https://orviva.ai/learn/snps/rs73221948 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Visceral adipose tissue volumes (adjusted for BMI and height) (β=0.094). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglycerides to Total Lipids in IDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501132 ## rs7322886 (RCBTB1 - ARL11) Source: https://orviva.ai/learn/snps/rs7322886 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.009). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Schizophrenia (OR=1.05). [GWAS Catalog] References: PMID:33169155; GWAS Catalog; GCST011768 ## rs73229090 (GULOP) Source: https://orviva.ai/learn/snps/rs73229090 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.032). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Schizophrenia (OR=1.10). [GWAS Catalog] References: PMID:35396580; GWAS Catalog; GCST90128471 ## rs73390208 (HLA-B) Source: https://orviva.ai/learn/snps/rs73390208 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Educational attainment (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Phospholipids to total lipids ratio in chylomicrons and extremely large VLDL (β=0.028). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90093049 ## rs73412716 (NAA25) Source: https://orviva.ai/learn/snps/rs73412716 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Ratio of linoleic acid to total fatty acids (β=0.055). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of T1 CAT volume L LeftAccumbens (OR=0.10). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092881 ## rs73428490 (RNU6-706P - MIR924HG) Source: https://orviva.ai/learn/snps/rs73428490 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.012). [GWAS Catalog] - **CC** (typical): C allele associated with increased Depression (β=0.029). [GWAS Catalog] References: PMID:37464041; GWAS Catalog; GCST90319327 ## rs73447108 (EIF1AX) Source: https://orviva.ai/learn/snps/rs73447108 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Low density lipoprotein cholesterol levels (β=0.017). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.010). [GWAS Catalog] References: PMID:32493714; GWAS Catalog; GCST90002412 ## rs73532287 (LINC00333 - LINC00375) Source: https://orviva.ai/learn/snps/rs73532287 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Insomnia (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Depression (β=0.019). [GWAS Catalog] References: PMID:37464041; GWAS Catalog; GCST90319327 ## rs7357754 (SEMA4D - GADD45G) Source: https://orviva.ai/learn/snps/rs7357754 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Cholesteryl Esters to Total Lipids in Medium HDL percentage (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.012). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501185 ## rs73596816 (LPA) Source: https://orviva.ai/learn/snps/rs73596816 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of Free cholesterol to total lipids in chylomicrons and extremely large VLDL per... (OR=0.15). [GWAS Catalog] - **GG** (typical): G allele associated with increased Monounsaturated fatty acid levels (β=0.073). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092928 ## rs7394871 (FADS3) Source: https://orviva.ai/learn/snps/rs7394871 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Triglyceride levels (β=0.035). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Fatty acid(20:4)_[M-H]1- levels (OR=0.10). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019523 ## rs740474 (DIAPH1) Source: https://orviva.ai/learn/snps/rs740474 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Allergic disease (asthma, hay fever or eczema) (OR=1.03). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018959 ## rs740746 (NHLRC2 - ADRB1) Source: https://orviva.ai/learn/snps/rs740746 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.012). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.28). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs7412 (APOE) Source: https://orviva.ai/learn/snps/rs7412 (curated, human-reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): APOE e2/e2. Protective against Alzheimer's but increased risk for type III hyperlipoproteinemia. - **CT / TC** (typical / lower): APOE e2 carrier. Mildly protective against Alzheimer's. - **CC** (typical): No APOE e2 allele. Interpret with rs429358 for full APOE haplotype. References: PMID:8346443; ClinVar ## rs7426688 (ROBO2) Source: https://orviva.ai/learn/snps/rs7426688 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs7428430 (SEMA3F-AS1) Source: https://orviva.ai/learn/snps/rs7428430 (imported from public databases, not individually reviewed; category: Drug response; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.026). [GWAS Catalog] - **TT** (typical): T allele associated with increased Medication use (opioids) (β=0.065). [GWAS Catalog] References: PMID:31015401; GWAS Catalog; GCST007936 ## rs74332078 (UBE2D3) Source: https://orviva.ai/learn/snps/rs74332078 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Pallidum iron levels (R2* MRI) (OR=0.14). [GWAS Catalog] - **AA** (typical): A allele associated with increased High density lipoprotein cholesterol levels (β=0.035). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551868 ## rs7447792 (LINC03122) Source: https://orviva.ai/learn/snps/rs7447792 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.006). [GWAS Catalog] - **CC** (typical): C allele associated with increased Drinks per week (β=0.007). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs745570 (LINC01977) Source: https://orviva.ai/learn/snps/rs745570 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Breast cancer (OR=1.03). [GWAS Catalog] References: PMID:29059683; GWAS Catalog; GCST004988 ## rs7466269 (FUBP3) Source: https://orviva.ai/learn/snps/rs7466269 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.031). [GWAS Catalog] - **AA** (typical): A allele associated with increased Bone mineral density (paediatric, lower limb) (β=0.087). [GWAS Catalog] References: PMID:24945404; GWAS Catalog; GCST002492 ## rs74747585 (CEACAM20 - CEACAM22P) Source: https://orviva.ai/learn/snps/rs74747585 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Phospholipids in medium VLDL (UKB data field 23504) (OR=0.10). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total omega-6 fatty acid levels (β=0.073). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269601 ## rs7481842 (FADS2 - FADS3) Source: https://orviva.ai/learn/snps/rs7481842 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.033). [GWAS Catalog] - **CC** (typical): C allele associated with increased Fatty acid(20:4)_[M-H]1- levels (β=0.082). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019501 ## rs7483863 (ZPR1) Source: https://orviva.ai/learn/snps/rs7483863 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Triglyceride to HDL cholesterol ratio (OR=0.26). [GWAS Catalog] - **AA** (increased): A allele associated with increased Cigarettes smoked per day (MTAG) (β=0.029). [GWAS Catalog] References: PMID:39277575; GWAS Catalog; GCST90435483 ## rs7488780 (PDE3A) Source: https://orviva.ai/learn/snps/rs7488780 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.25). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.011). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310294 ## rs7488974 (ATP2B1-AS1) Source: https://orviva.ai/learn/snps/rs7488974 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.046). [GWAS Catalog] - **AA** (increased): A allele associated with increased Morningness (β=0.016). [GWAS Catalog] References: PMID:30804565; GWAS Catalog; GCST007983 ## rs74920406 (ELAPOR1) Source: https://orviva.ai/learn/snps/rs74920406 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.021). [GWAS Catalog] - **TT** (typical): T allele associated with increased Low density lipoprotein cholesterol levels (β=0.036). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs749671 (ZNF646) Source: https://orviva.ai/learn/snps/rs749671 (imported from public databases, not individually reviewed; category: Drug response; effect allele G) - **GG** (increased): G allele associated with substantially increased risk of Warfarin maintenance dose (OR=20.40). [GWAS Catalog] - **AA** (typical): A allele associated with increased Free Cholesterol to Total Lipids in Large LDL percentage (β=0.020). [GWAS Catalog] References: PMID:26265036; GWAS Catalog; GCST003085 ## rs7498665 (SH2B1) Source: https://orviva.ai/learn/snps/rs7498665 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (β=0.029). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Obesity (OR=1.07). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009003 ## rs74986809 (CMIP) Source: https://orviva.ai/learn/snps/rs74986809 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with increased Triglyceride levels (MTAG) (β=0.025). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-hip index (β=0.026). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs7501331 (BCMO1) Source: https://orviva.ai/learn/snps/rs7501331 (curated, human-reviewed; category: Nutrition; effect allele T) - **TT** (increased): Significantly reduced beta-carotene to vitamin A conversion (~69% reduction). Preformed vitamin A (retinol) recommended. - **CT / TC** (increased): Moderately reduced beta-carotene conversion (~32% reduction). - **CC** (typical): Normal beta-carotene to vitamin A conversion. References: PMID:19103647 ## rs7502307 (C17orf58) Source: https://orviva.ai/learn/snps/rs7502307 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Standing height (UKB data field 50) (β=0.013). [GWAS Catalog] - **CC** (typical): C allele associated with increased Triglycerides (β=0.024). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs7502669 (POLR2A - Y_RNA) Source: https://orviva.ai/learn/snps/rs7502669 (imported from public databases, not individually reviewed; category: Drug response; effect allele G) - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.017). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist circumference adjusted for body mass index (β=0.018). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428448 ## rs75077113 (MTOR) Source: https://orviva.ai/learn/snps/rs75077113 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.009). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.023). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs7511672 (LEPR - RN7SL854P) Source: https://orviva.ai/learn/snps/rs7511672 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Migraine (OR=1.03). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.015). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs75120545 (LRPPRC - PPM1B-DT) Source: https://orviva.ai/learn/snps/rs75120545 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with marginally increased risk of Chronotype (OR=1.09). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Spherical equivalent (OR=0.28). [GWAS Catalog] References: PMID:32352494; GWAS Catalog; GCST010378 ## rs7517754 (NVL - CNIH4) Source: https://orviva.ai/learn/snps/rs7517754 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Height (standard GWA) (OR=0.16). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total cholesterol levels (β=0.016). [GWAS Catalog] References: PMID:37106081; GWAS Catalog; GCST90267284 ## rs75191738 (L3MBTL3) Source: https://orviva.ai/learn/snps/rs75191738 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.028). [GWAS Catalog] - **TT** (typical): T allele associated with increased Skull bone mineral density (β=0.061). [GWAS Catalog] References: PMID:37402774; GWAS Catalog; GCST90310280 ## rs751985 (LRRC10B - SYT7) Source: https://orviva.ai/learn/snps/rs751985 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.30). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Pulse pressure (BMI adjusted) (OR=0.40). [GWAS Catalog] References: PMID:30487518; GWAS Catalog; GCST007704 ## rs7519889 (WNT4 - MIR4418) Source: https://orviva.ai/learn/snps/rs7519889 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.047). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.026). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs7524102 (PPIAP34 - ZBTB40) Source: https://orviva.ai/learn/snps/rs7524102 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.008). [GWAS Catalog] - **AA** (typical): A allele associated with increased Femoral neck bone mineral density (β=0.083). [GWAS Catalog] References: PMID:29499414; GWAS Catalog; GCST005795 ## rs7528419 (CELSR2) Source: https://orviva.ai/learn/snps/rs7528419 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of low density lipoprotein cholesterol (LDLC, minimum, inv-norm transformed) (OR=0.12). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.014). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs7528604 (PDE4B) Source: https://orviva.ai/learn/snps/rs7528604 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] - **AA** (increased): A allele associated with increased BMI (standard GWA) (β=0.070). [GWAS Catalog] References: PMID:37106081; GWAS Catalog; GCST90267268 ## rs7531118 (LINC02796) Source: https://orviva.ai/learn/snps/rs7531118 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Depression (β=0.032). [GWAS Catalog] - **CC** (typical): C allele associated with increased Drinks per week (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs7531138 (DPYD) Source: https://orviva.ai/learn/snps/rs7531138 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (β=0.007). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Schizophrenia (OR=1.04). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs75398113 (SNRPC) Source: https://orviva.ai/learn/snps/rs75398113 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Total esterified cholesterol levels (β=0.046). [GWAS Catalog] - **CC** (slightly elevated): C allele associated with slightly increased risk of Obese vs. thin (OR=1.30). [GWAS Catalog] References: PMID:30677029; GWAS Catalog; GCST007240 ## rs75398587 (NOLC1 - ELOVL3) Source: https://orviva.ai/learn/snps/rs75398587 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.027). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.014). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs754388 (RIN3) Source: https://orviva.ai/learn/snps/rs754388 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **CC** (typical): C allele associated with marginally increased risk of Chronic obstructive pulmonary disease (OR=1.15). [GWAS Catalog] - **GG** (increased): G allele associated with increased Hip index (β=0.028). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012229 ## rs7546252 (PIGC, DNM3) Source: https://orviva.ai/learn/snps/rs7546252 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Hip index (β=0.026). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.026). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs75479205 (RREB1 - SSR1) Source: https://orviva.ai/learn/snps/rs75479205 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased HDL cholesterol levels (β=0.014). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs7550711 (GPR61) Source: https://orviva.ai/learn/snps/rs7550711 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.061). [GWAS Catalog] - **TT** (typical): T allele associated with increased High-density lipoprotein levels (MTAG) (β=0.053). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179147 ## rs7551124 (ASAP3) Source: https://orviva.ai/learn/snps/rs7551124 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.027). [GWAS Catalog] - **CC** (typical): C allele associated with increased Total fatty acids levels (UKB data field 23442) (β=0.043). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239676 ## rs7551758 (NRDC) Source: https://orviva.ai/learn/snps/rs7551758 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with increased Major depressive disorder (broad) (β=0.022). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.008). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs7555577 (DOCK7) Source: https://orviva.ai/learn/snps/rs7555577 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (typical): A allele associated with increased Triglycerides in very large HDL (β=0.061). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Postprandial omega-6 fatty acids (OR=0.13). [GWAS Catalog] References: PMID:34610981; GWAS Catalog; GCST90091658 ## rs75570604 (FANCA) Source: https://orviva.ai/learn/snps/rs75570604 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (high): G allele associated with substantially increased risk of Red vs. brown/black hair color (OR=4.19). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Malignant melanoma (OR=0.42). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468141 ## rs7563362 (LINC01875 - TMEM18) Source: https://orviva.ai/learn/snps/rs7563362 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.017). [GWAS Catalog] - **AA** (typical): A allele associated with increased Metabolic syndrome (β=0.061). [GWAS Catalog] References: PMID:31589552; GWAS Catalog; GCST009602 ## rs75641275 (DPYD) Source: https://orviva.ai/learn/snps/rs75641275 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Cholesteryl Esters in Large HDL (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.022). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs7564708 (LINC01875 - TMEM18) Source: https://orviva.ai/learn/snps/rs7564708 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Body mass index z-score (OR=0.11). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Type 2 diabetes (OR=0.11). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018706 ## rs75675343 (RNU6-699P - RNU1-63P) Source: https://orviva.ai/learn/snps/rs75675343 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Lung cancer (OR=1.05). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs75686861 (HHIP) Source: https://orviva.ai/learn/snps/rs75686861 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.028). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Osteoarthritis (with total hip replacement) (OR=1.10). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566802 ## rs757081 (NUCB2) Source: https://orviva.ai/learn/snps/rs757081 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.017). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.27). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs7571789 (TGFA) Source: https://orviva.ai/learn/snps/rs7571789 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Hand grip strength left (UKB data field 46) (β=0.012). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Osteoarthritis (hip) (OR=1.09). [GWAS Catalog] References: PMID:30664745; GWAS Catalog; GCST007091 ## rs7575523 (LINC01122) Source: https://orviva.ai/learn/snps/rs7575523 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (typical / lower): T allele associated with decreased risk of Waist circumference (OR=0.24). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cholesterol to Total Lipids in Large HDL percentage (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501135 ## rs75782365 (BTN3A1) Source: https://orviva.ai/learn/snps/rs75782365 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (slightly elevated): T allele associated with slightly increased risk of Autism spectrum disorder or schizophrenia (OR=1.21). [GWAS Catalog] - **GG** (increased): G allele associated with increased A body shape index (β=0.030). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012231 ## rs7579427 (LINC01875 - TMEM18) Source: https://orviva.ai/learn/snps/rs7579427 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Type 2 diabetes (β=0.066). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.057). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs7580488 (CUL3 - CCDC195) Source: https://orviva.ai/learn/snps/rs7580488 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs75815271 (SPINK8 - FBXW12) Source: https://orviva.ai/learn/snps/rs75815271 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Serum urate levels (β=0.035). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.031). [GWAS Catalog] References: PMID:38538606; GWAS Catalog; GCST90428119 ## rs7583067 (AFF3) Source: https://orviva.ai/learn/snps/rs7583067 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (high): T allele associated with substantially increased risk of General cognitive ability (OR=7.33). [GWAS Catalog] - **CC** (typical): C allele associated with increased HDL cholesterol levels (β=0.015). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs758801 (STAB1) Source: https://orviva.ai/learn/snps/rs758801 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Triglyceride levels (β=0.028). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.023). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019523 ## rs75919030 (CA10) Source: https://orviva.ai/learn/snps/rs75919030 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.011). [GWAS Catalog] - **CC** (increased): C allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.021). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs7592216 (RNU6ATAC19P - ITPRID2-DT) Source: https://orviva.ai/learn/snps/rs7592216 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.007). [GWAS Catalog] - **TT** (typical): T allele associated with increased Calcium levels (β=0.021). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs75925257 (HMGN2P18 - KRTCAP2) Source: https://orviva.ai/learn/snps/rs75925257 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Urate levels (β=0.033). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.019). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019524 ## rs7595075 (SH3YL1) Source: https://orviva.ai/learn/snps/rs7595075 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased HDL cholesterol levels (β=0.014). [GWAS Catalog] - **AA** (increased): A allele associated with increased Waist circumference adjusted for body mass index (β=0.019). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012226 ## rs7598185 (RNA5SP94 - MIR4432HG) Source: https://orviva.ai/learn/snps/rs7598185 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Educational attainment (β=0.008). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs7599488 (BCL11A) Source: https://orviva.ai/learn/snps/rs7599488 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Cigarettes smoked per day (β=0.015). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Schizophrenia (OR=1.04). [GWAS Catalog] References: PMID:35396580; GWAS Catalog; GCST90128471 ## rs760077 (THBS3, MTX1) Source: https://orviva.ai/learn/snps/rs760077 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Serum urate levels (β=0.052). [GWAS Catalog] - **TT** (typical): T allele associated with increased Calcium levels (β=0.003). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319904 ## rs7601441 (LAPTM4A-DT - RPS16P2) Source: https://orviva.ai/learn/snps/rs7601441 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.010). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Osteoarthritis of the hip or knee (OR=0.98). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs760719 (KCTD17 - TMPRSS6) Source: https://orviva.ai/learn/snps/rs760719 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Low density lipoprotein cholesterol levels (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with increased Iron status biomarkers (ferritin levels) (β=0.026). [GWAS Catalog] References: PMID:28334935; GWAS Catalog; GCST004573 ## rs7611694 (SIDT1) Source: https://orviva.ai/learn/snps/rs7611694 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with marginally increased risk of Prostate cancer (OR=1.09). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.005). [GWAS Catalog] References: PMID:29892016; GWAS Catalog; GCST006085 ## rs76157199 (TMEM131) Source: https://orviva.ai/learn/snps/rs76157199 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (increased): A allele associated with increased Height (baseline) (β=0.027). [GWAS Catalog] - **GG** (typical): G allele associated with increased Calcium levels (β=0.042). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019500 ## rs7617480 (KLHDC8B) Source: https://orviva.ai/learn/snps/rs7617480 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Depression (β=0.029). [GWAS Catalog] - **CC** (increased): C allele associated with increased Smoking cessation (β=0.033). [GWAS Catalog] References: PMID:37464041; GWAS Catalog; GCST90319327 ## rs76246107 (PRR12) Source: https://orviva.ai/learn/snps/rs76246107 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.017). [GWAS Catalog] - **AA** (typical): A allele associated with increased Free Cholesterol to Total Lipids in Medium HDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501187 ## rs762551 (CYP1A2) Source: https://orviva.ai/learn/snps/rs762551 (curated, human-reviewed; category: Trait; effect allele A) - **AA** (typical / lower): Fast caffeine metabolizer. Can process caffeine quickly; moderate coffee consumption may be cardioprotective. - **AC / CA** (typical / lower): Moderate caffeine metabolizer. - **CC** (typical / lower): Slow caffeine metabolizer. Caffeine stays in system longer; higher sensitivity and potential cardiovascular risk from excess coffee. References: PMID:16522833; PharmGKB ## rs76259755 (LPL - RPL30P9) Source: https://orviva.ai/learn/snps/rs76259755 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased Docosahexaenoic acid to total fatty acids percentage (β=0.070). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglycerides in very large HDL (β=0.074). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501107 ## rs76287541 (NFIC) Source: https://orviva.ai/learn/snps/rs76287541 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Height (standard GWA) (OR=0.16). [GWAS Catalog] - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.017). [GWAS Catalog] References: PMID:37106081; GWAS Catalog; GCST90267284 ## rs763361 (CD226) Source: https://orviva.ai/learn/snps/rs763361 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with marginally increased risk of Autoimmune thyroid disease (OR=1.06). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.004). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs76364830 (DLC1) Source: https://orviva.ai/learn/snps/rs76364830 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Height (maximum, inv-normal transformed) (OR=0.12). [GWAS Catalog] - **AA** (typical): A allele associated with increased Atrial fibrillation (β=0.052). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475359 ## rs76410205 (WHSC1L2P - SOST) Source: https://orviva.ai/learn/snps/rs76410205 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.022). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Ultradistal forearm bone mineral density (OR=0.11). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs7646954 (ACTG1P23 - EI24P1) Source: https://orviva.ai/learn/snps/rs7646954 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs7647481 (PPARG) Source: https://orviva.ai/learn/snps/rs7647481 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical): A allele associated with increased FABP4 protein levels (β=0.080). [GWAS Catalog] - **GG** (typical): G allele associated with increased Takes medication for Diabetes/sugar? (β=0.093). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475268 ## rs7650253 (RHOA) Source: https://orviva.ai/learn/snps/rs7650253 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Fluid intelligence score (baseline) (β=0.031). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum 25-Hydroxyvitamin D levels (β=0.015). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565842 ## rs76552497 (LINC00681 - TRMT9B) Source: https://orviva.ai/learn/snps/rs76552497 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Educational attainment (MTAG) (β=0.012). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.011). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs7656001 (CCSER1) Source: https://orviva.ai/learn/snps/rs7656001 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.010). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.026). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs76594121 (DNAJB8-AS1) Source: https://orviva.ai/learn/snps/rs76594121 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Total lipids in very large HDL (β=0.030). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.040). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501300 ## rs766406 (H4C8 - H3C9P) Source: https://orviva.ai/learn/snps/rs766406 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Educational attainment (MTAG) (β=0.014). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006571 ## rs7665151 (RNU6-34P - LINC02267) Source: https://orviva.ai/learn/snps/rs7665151 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **AA** (typical): A allele associated with increased Diastolic blood pressure (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs7668764 (LEF1) Source: https://orviva.ai/learn/snps/rs7668764 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.19). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.008). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs767012 (LINC01122 - RNU6-508P) Source: https://orviva.ai/learn/snps/rs767012 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs7678138 (MYOZ2) Source: https://orviva.ai/learn/snps/rs7678138 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.011). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total cholesterol levels (β=0.020). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018974 ## rs7679 (PCIF1) Source: https://orviva.ai/learn/snps/rs7679 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Triglycerides to Total Lipids in Chylomicrons and Extremely Large VLDL percen... (OR=0.13). [GWAS Catalog] - **TT** (typical): T allele associated with increased Ratio of monounsaturated fatty acids to total fatty acids (β=0.057). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092929 ## rs76798800 (DCST2) Source: https://orviva.ai/learn/snps/rs76798800 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Cutaneous melanoma (MTAG) (β=0.082). [GWAS Catalog] - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.022). [GWAS Catalog] References: PMID:34813871; GWAS Catalog; GCST90103971 ## rs76824303 (CADPS) Source: https://orviva.ai/learn/snps/rs76824303 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (increased): A allele associated with increased Body mass index (β=0.023). [GWAS Catalog] - **CC** (typical): C allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501219 ## rs76895963 (CCND2, CCND2-AS1) Source: https://orviva.ai/learn/snps/rs76895963 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (typical / lower): T allele associated with decreased risk of Height (OR=0.25). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Type 2 diabetes (OR=0.79). [GWAS Catalog] References: PMID:39379762; GWAS Catalog; GCST90444202 ## rs76942203 (SIK3 - PAFAH1B2) Source: https://orviva.ai/learn/snps/rs76942203 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.030). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Metabolic syndrome (OR=0.10). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs7694379 (KLHL8 - MIR5705) Source: https://orviva.ai/learn/snps/rs7694379 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglycerides x depression interaction (2df test) (β=0.008). [GWAS Catalog] References: PMID:40537477; GWAS Catalog; GCST90570679 ## rs769449 (APOE) Source: https://orviva.ai/learn/snps/rs769449 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Low density lipoprotein cholesterol levels (OR=0.19). [GWAS Catalog] - **AA** (increased): A allele associated with increased Longevity (β=0.058). [GWAS Catalog] References: PMID:31484785; GWAS Catalog; GCST009448 ## rs769450 (APOE) Source: https://orviva.ai/learn/snps/rs769450 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Low density lipoprotein cholesterol levels (β=0.048). [GWAS Catalog] - **GG** (increased): G allele associated with increased Hand grip strength (baseline) (β=0.008). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565845 ## rs7696257 (TERF1P3 - LINC02511) Source: https://orviva.ai/learn/snps/rs7696257 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs76993203 (BOK) Source: https://orviva.ai/learn/snps/rs76993203 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased height (mean, inv-normal transformed) (β=0.055). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Osteoarthritis of the hip or knee (OR=0.97). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475362 ## rs7700107 (LCORL) Source: https://orviva.ai/learn/snps/rs7700107 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Height (β=0.059). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.024). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662893 ## rs7700453 (CDH18) Source: https://orviva.ai/learn/snps/rs7700453 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.006). [GWAS Catalog] - **GG** (typical): G allele associated with increased Depression (β=0.016). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs7705189 (P4HA2) Source: https://orviva.ai/learn/snps/rs7705189 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Standing height (UKB data field 50) (β=0.022). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Gout (OR=0.96). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs77123275 (RORB-AS1) Source: https://orviva.ai/learn/snps/rs77123275 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Male-pattern baldness (β=0.068). [GWAS Catalog] - **CC** (typical): C allele associated with increased Alcohol consumption (drinks per month) (UKB data field 1578, 4424) (β=0.029). [GWAS Catalog] References: PMID:30573740; GWAS Catalog; GCST007020 ## rs77136196 (SMIM29-AS1) Source: https://orviva.ai/learn/snps/rs77136196 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Total lipid levels in very large HDL (β=0.053). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Type 2 diabetes (adjusted for BMI) (OR=1.11). [GWAS Catalog] References: PMID:30297969; GWAS Catalog; GCST009380 ## rs7719067 (MFAP3) Source: https://orviva.ai/learn/snps/rs7719067 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Overweight, obesity and other hyperalimentation (PheCode 278) (β=0.034). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (UKB data field 21001) (β=0.014). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468161 ## rs77216612 (CDKN1B - APOLD1) Source: https://orviva.ai/learn/snps/rs77216612 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.015). [GWAS Catalog] - **GG** (increased): G allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs77265569 (SMARCA4 - LDLR) Source: https://orviva.ai/learn/snps/rs77265569 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **GG** (typical): G allele associated with increased Triglycerides to total lipids ratio in medium LDL (β=0.091). [GWAS Catalog] - **TT** (typical): T allele associated with increased Polyunsaturated fatty acids to total fatty acids percentage (β=0.030). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501231 ## rs77303550 (DHODH - HP) Source: https://orviva.ai/learn/snps/rs77303550 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.065). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (baseline) (β=0.013). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662895 ## rs773107 (RAB5B) Source: https://orviva.ai/learn/snps/rs773107 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Age when finished full-time education (standard GWA) (β=0.032). [GWAS Catalog] - **AA** (typical): A allele associated with increased Psoriasis (β=0.064). [GWAS Catalog] References: PMID:37106081; GWAS Catalog; GCST90267280 ## rs7733438 (MIR9-2HG, MEF2C-AS2) Source: https://orviva.ai/learn/snps/rs7733438 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (β=0.030). [GWAS Catalog] - **TT** (typical): T allele associated with increased Diastolic blood pressure (β=0.016). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662909 ## rs77347777 (ITIH4) Source: https://orviva.ai/learn/snps/rs77347777 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.020). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.25). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310294 ## rs7738395 (MAP3K7 - MIR4643) Source: https://orviva.ai/learn/snps/rs7738395 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.007). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs7740188 (L3MBTL3) Source: https://orviva.ai/learn/snps/rs7740188 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.044). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.014). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs7742789 (ZNF318 - ABCC10) Source: https://orviva.ai/learn/snps/rs7742789 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased magnesium (Mg, mean, inv-norm transformed) (β=0.055). [GWAS Catalog] - **TT** (typical): T allele associated with increased Heart failure (β=0.031). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475480 ## rs77466626 (FADS2) Source: https://orviva.ai/learn/snps/rs77466626 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Triglyceride levels (β=0.039). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.015). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662857 ## rs77487268 (RN7SKP68 - SLCO6A1) Source: https://orviva.ai/learn/snps/rs77487268 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Type 2 diabetes (OR=0.14). [GWAS Catalog] - **GG** (increased): G allele associated with increased Fluid intelligence score (baseline) (β=0.034). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs77495054 (RSPO3) Source: https://orviva.ai/learn/snps/rs77495054 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.067). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-hip index (β=0.090). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs7756992 (CDKAL1) Source: https://orviva.ai/learn/snps/rs7756992 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Type 2 diabetes (OR=0.12). [GWAS Catalog] - **AA** (increased): A allele associated with increased Birth length (MTAG) (β=0.059). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010555 ## rs77605964 (COG5) Source: https://orviva.ai/learn/snps/rs77605964 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased HDL cholesterol levels (β=0.017). [GWAS Catalog] - **AA** (increased): A allele associated with increased Insomnia (β=0.009). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs7763558 (ZNF318 - ABCC10) Source: https://orviva.ai/learn/snps/rs7763558 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Systolic blood pressure (β=0.021). [GWAS Catalog] - **GG** (typical): G allele associated with increased Calcium (maximum, inv-norm transformed) (β=0.025). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475173 ## rs7766070 (CDKAL1) Source: https://orviva.ai/learn/snps/rs7766070 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Type 2 diabetes (PheCode 250.2) (OR=0.10). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Type 2 diabetes (adjusted for BMI) (OR=0.12). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475667 ## rs7766089 (RPL3P2 - WASF5P) Source: https://orviva.ai/learn/snps/rs7766089 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased A body shape index (β=0.027). [GWAS Catalog] - **AA** (typical): A allele associated with increased CRIM1 protein levels (β=0.041). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468863 ## rs7766641 (H2BC6) Source: https://orviva.ai/learn/snps/rs7766641 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.044). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Lung cancer or family history of lung cancer (OR=0.93). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs77666565 (GUSBP2) Source: https://orviva.ai/learn/snps/rs77666565 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Cognitive aspects of educational attainment (β=0.099). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.23). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132904 ## rs776746 (CYP3A5) Source: https://orviva.ai/learn/snps/rs776746 (curated, human-reviewed; category: Drug response; effect allele T) - **TT** (increased): CYP3A5*1/*1 expresser. Rapid tacrolimus metabolism; higher dose needed for transplant patients. - **CT / TC** (increased): CYP3A5*1/*3 intermediate expresser. Moderately increased tacrolimus clearance. - **CC** (typical): CYP3A5*3/*3 non-expresser. Standard tacrolimus dosing. References: CPIC; PMID:26417955; PharmGKB ## rs77697917 (SOST - DUSP3) Source: https://orviva.ai/learn/snps/rs77697917 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of High density lipoprotein cholesterol levels (OR=0.15). [GWAS Catalog] - **TT** (typical): T allele associated with increased Monounsaturated fatty acids (16:1, 18:1) levels (β=0.085). [GWAS Catalog] References: PMID:29507422; GWAS Catalog; GCST007140 ## rs7773004 (H2BC9 - H3C8) Source: https://orviva.ai/learn/snps/rs7773004 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.044). [GWAS Catalog] - **GG** (typical): G allele associated with increased Triglyceride percentage of total lipids in intermediate-density lipoprotein (β=0.026). [GWAS Catalog] References: PMID:40307439; GWAS Catalog; GCST90454489 ## rs7774 (CHRNE, MINK1) Source: https://orviva.ai/learn/snps/rs7774 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.014). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of PR interval (OR=0.46). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs77768175 (HECTD4) Source: https://orviva.ai/learn/snps/rs77768175 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (slightly elevated): G allele associated with slightly increased risk of HDL cholesterol levels (OR=1.40). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Mean arterial pressure (BMI unadjusted) (OR=0.73). [GWAS Catalog] References: PMID:39048560; GWAS Catalog; GCST90335168 ## rs7780562 (MIR148A - NFE2L3) Source: https://orviva.ai/learn/snps/rs7780562 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Low-density lipoprotein levels (β=0.027). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.008). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662892 ## rs778160 (USP34) Source: https://orviva.ai/learn/snps/rs778160 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (increased): C allele associated with increased Height (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Crohn's disease (OR=1.15). [GWAS Catalog] References: PMID:37262302; GWAS Catalog; GCST90301326 ## rs77866798 (C4orf51) Source: https://orviva.ai/learn/snps/rs77866798 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (baseline) (β=0.011). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Systolic blood pressure (OR=0.21). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310294 ## rs7788746 (AZGP1P1 - ZKSCAN1) Source: https://orviva.ai/learn/snps/rs7788746 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.010). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.19). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs77924615 (PDILT) Source: https://orviva.ai/learn/snps/rs77924615 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical): A allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.084). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Chronic renal failure [CKD] (PheCode 585.3) (OR=0.20). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480379 ## rs7795873 (CTTNBP2) Source: https://orviva.ai/learn/snps/rs7795873 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking cessation (MTAG) (β=0.012). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007464 ## rs77960347 (LIPG) Source: https://orviva.ai/learn/snps/rs77960347 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) (OR=0.47). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Polyunsaturated fatty acid levels (OR=0.23). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501229 ## rs7796089 (PHTF2) Source: https://orviva.ai/learn/snps/rs7796089 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased height (mean, inv-normal transformed) (β=0.042). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.22). [GWAS Catalog] References: PMID:30578418; GWAS Catalog; GCST007267 ## rs7798566 (PRSS37 - OR9A3P) Source: https://orviva.ai/learn/snps/rs7798566 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Leptin levels in lean individuals (OR=0.49). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Body mass index (OR=0.42). [GWAS Catalog] References: PMID:31675503; GWAS Catalog; GCST009057 ## rs7800944 (MLXIPL) Source: https://orviva.ai/learn/snps/rs7800944 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (typical): T allele associated with increased Coffee consumption (cups per day) (β=0.050). [GWAS Catalog] - **CC** (typical): C allele associated with increased Serum uric acid levels (β=0.034). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018757 ## rs78030362 (ELL) Source: https://orviva.ai/learn/snps/rs78030362 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with slightly decreased risk of Coronary artery disease (OR=0.91). [GWAS Catalog] - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.028). [GWAS Catalog] References: PMID:36474045; GWAS Catalog; GCST90132314 ## rs78035324 (DNAH10) Source: https://orviva.ai/learn/snps/rs78035324 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.019). [GWAS Catalog] - **AA** (typical): A allele associated with increased High-density lipoprotein levels (MTAG) (β=0.027). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs7808613 (INHBA-AS1) Source: https://orviva.ai/learn/snps/rs7808613 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Total cholesterol levels (β=0.012). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.008). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs7810507 (KLF14 - LINC-PINT) Source: https://orviva.ai/learn/snps/rs7810507 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.040). [GWAS Catalog] - **GG** (typical): G allele associated with increased Cholesteryl ester levels in large HDL (β=0.034). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs7812039 (HOTTIP - EVX1-AS) Source: https://orviva.ai/learn/snps/rs7812039 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.025). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.014). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs78132593 (CTXND2) Source: https://orviva.ai/learn/snps/rs78132593 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (typical): A allele associated with increased Phospholipids in small HDL (β=0.050). [GWAS Catalog] - **CC** (typical): C allele associated with increased Caudate iron levels (quantitative susceptibility mapping) (β=0.059). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551863 ## rs78138914 (MC4R - MRPS5P4) Source: https://orviva.ai/learn/snps/rs78138914 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.040). [GWAS Catalog] - **AA** (typical): A allele associated with increased High-density lipoprotein levels (MTAG) (β=0.037). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs7814941 (CCDC26) Source: https://orviva.ai/learn/snps/rs7814941 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Standing height (UKB data field 50) (β=0.030). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Osteoarthritis (with total hip replacement) (OR=1.09). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566802 ## rs781658 (REST) Source: https://orviva.ai/learn/snps/rs781658 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.024). [GWAS Catalog] - **AA** (typical): A allele associated with increased Myocardial infarction (β=0.061). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018877 ## rs781663 (REST) Source: https://orviva.ai/learn/snps/rs781663 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.035). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Coronary artery disease (OR=0.96). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs781669 (REST) Source: https://orviva.ai/learn/snps/rs781669 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Hip index (β=0.022). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Atrial fibrillation (OR=1.03). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020026 ## rs7828742 (TRPS1 - LINC00536) Source: https://orviva.ai/learn/snps/rs7828742 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Serum 25-Hydroxyvitamin D levels (β=0.022). [GWAS Catalog] - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.008). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs78357146 (PRKCA) Source: https://orviva.ai/learn/snps/rs78357146 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased triglyceride (minimum, inv-norm transformed) (β=0.095). [GWAS Catalog] - **GG** (typical): G allele associated with increased Omega-6 fatty acids to total fatty acids percentage (β=0.060). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501225 ## rs78369934 (MAP3K3) Source: https://orviva.ai/learn/snps/rs78369934 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Adult body size (β=0.020). [GWAS Catalog] - **CC** (typical / lower): C allele associated with slightly decreased risk of Migraine or type 2 diabetes (OR=0.95). [GWAS Catalog] References: PMID:36292730; GWAS Catalog; GCST90244660 ## rs7837587 (LINC02950 - RN7SL178P) Source: https://orviva.ai/learn/snps/rs7837587 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.015). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglycerides to total lipids ratio in very large HDL (β=0.033). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90093015 ## rs7838131 (GATA4) Source: https://orviva.ai/learn/snps/rs7838131 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Systolic blood pressure (UKB data field 4080) (β=0.018). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-hip index (β=0.018). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012228 ## rs78408340 (PAM) Source: https://orviva.ai/learn/snps/rs78408340 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical / lower): G allele associated with decreased risk of Type 2 diabetes (OR=0.41). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.086). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662911 ## rs7842666 (CCDC25, ESCO2) Source: https://orviva.ai/learn/snps/rs7842666 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.024). [GWAS Catalog] - **AA** (typical): A allele associated with increased Drinks per week (β=0.006). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243989 ## rs78444298 (EDEM3) Source: https://orviva.ai/learn/snps/rs78444298 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.079). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.025). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs7856690 (ZCCHC7) Source: https://orviva.ai/learn/snps/rs7856690 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Diastolic blood pressure (β=0.013). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.013). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662909 ## rs78588343 (RREB1) Source: https://orviva.ai/learn/snps/rs78588343 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with increased Free Cholesterol to Total Lipids in Large LDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501151 ## rs7859727 (CDKN2B-AS1) Source: https://orviva.ai/learn/snps/rs7859727 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Heart failure (β=0.048). [GWAS Catalog] - **CC** (increased): C allele associated with increased Aging (β=0.009). [GWAS Catalog] References: PMID:40195560; GWAS Catalog; GCST90455657 ## rs7861679 (MEGF9) Source: https://orviva.ai/learn/snps/rs7861679 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.019). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglycerides (β=0.012). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs78621285 (HS3ST2) Source: https://orviva.ai/learn/snps/rs78621285 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Educational attainment (β=0.012). [GWAS Catalog] - **TT** (typical): T allele associated with increased Drinks per week (β=0.010). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs78677597 (PRDX2P4 - SIM1) Source: https://orviva.ai/learn/snps/rs78677597 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Atrial fibrillation (β=0.038). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.015). [GWAS Catalog] References: PMID:40645996; GWAS Catalog; GCST90624412 ## rs78815801 (MLXIPL - VPS37D) Source: https://orviva.ai/learn/snps/rs78815801 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Drinks per week (β=0.015). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglycerides x low social support interaction (2df test) (β=0.009). [GWAS Catalog] References: PMID:40537477; GWAS Catalog; GCST90570693 ## rs7896518 (JMJD1C) Source: https://orviva.ai/learn/snps/rs7896518 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased High-density lipoprotein levels (MTAG) (β=0.026). [GWAS Catalog] - **GG** (increased): G allele associated with increased Smoking cessation (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243980 ## rs7898861 (REEP3) Source: https://orviva.ai/learn/snps/rs7898861 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with marginally increased risk of Atrial fibrillation (OR=1.05). [GWAS Catalog] - **CC** (increased): C allele associated with increased Standing height (UKB data field 50) (β=0.010). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs7900194 (CYP2C9) Source: https://orviva.ai/learn/snps/rs7900194 (curated, human-reviewed; category: Drug response; effect allele A) - **AA** (reduced): CYP2C9*8 homozygous (R150H). Decreased CYP2C9 function; common in African populations. Affects warfarin dosing. - **GA / AG** (reduced): CYP2C9*8 carrier. Decreased function allele. - **GG** (typical): No CYP2C9*8 variant detected. References: CPIC; PharmVar; PMID:18250228 ## rs7902146 (ARID5B) Source: https://orviva.ai/learn/snps/rs7902146 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with slightly decreased risk of Rheumatoid arthritis (OR=0.89). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.018). [GWAS Catalog] References: PMID:36333501; GWAS Catalog; GCST90132222 ## rs7903146 (TCF7L2) Source: https://orviva.ai/learn/snps/rs7903146 (curated, human-reviewed; category: Health risk; effect allele T) - **TT** (high): Significantly increased risk for Type 2 Diabetes. TCF7L2 is the strongest common genetic risk factor for T2D. - **CT / TC** (slightly elevated): Moderately increased T2D risk due to one copy of TCF7L2 risk variant. - **CC** (typical / lower): Typical T2D risk at this locus. References: PMID:16415884; GWAS Catalog ## rs79036893 (OTX1 - RPL27P5) Source: https://orviva.ai/learn/snps/rs79036893 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.014). [GWAS Catalog] - **AA** (increased): A allele associated with increased Age of smoking initiation (MTAG) (β=0.015). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs7908745 (MARCHF8) Source: https://orviva.ai/learn/snps/rs7908745 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased Soluble transferrin receptor concentration (β=0.053). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total lipids in HDL (UKB data field 23426) (β=0.031). [GWAS Catalog] References: PMID:39643614; GWAS Catalog; GCST90451684 ## rs791218 (SPPL3) Source: https://orviva.ai/learn/snps/rs791218 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.068). [GWAS Catalog] - **CC** (increased): C allele associated with increased Cognitive performance (MTAG) (β=0.018). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs79153732 (CSGALNACT1 - INTS10) Source: https://orviva.ai/learn/snps/rs79153732 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased HDL cholesterol levels (β=0.094). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Polyunsaturated fatty acids to monounsaturated fatty acids ratio (UKB data fi... (OR=0.11). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010242 ## rs7916697 (ATOH7) Source: https://orviva.ai/learn/snps/rs7916697 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Open-angle glaucoma (PheCode 365.1) (OR=0.11). [GWAS Catalog] - **GG** (increased): G allele associated with increased Smoking initiation (β=0.006). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480067 ## rs7916868 (JMJD1C) Source: https://orviva.ai/learn/snps/rs7916868 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Phospholipids to Total Lipids in Very Small VLDL percentage (β=0.030). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (baseline) (β=0.011). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501327 ## rs79172804 (LINC02210-CRHR1) Source: https://orviva.ai/learn/snps/rs79172804 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of IDP dMRI TBSS ICVF Superior fronto-occipital fasciculus R (OR=0.14). [GWAS Catalog] - **GG** (typical): G allele associated with increased Substantia nigra iron levels (quantitative susceptibility mapping) (β=0.052). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90004369 ## rs79220007 (HFE, H2BC4) Source: https://orviva.ai/learn/snps/rs79220007 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of TF protein levels (OR=0.34). [GWAS Catalog] - **TT** (typical): T allele associated with increased Low-density lipoprotein levels (β=0.069). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662892 ## rs7923837 (Y_RNA - EXOC6) Source: https://orviva.ai/learn/snps/rs7923837 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Multiple sclerosis (OR=1.11). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.015). [GWAS Catalog] References: PMID:28892062; GWAS Catalog; GCST004904 ## rs7925100 (VPS11) Source: https://orviva.ai/learn/snps/rs7925100 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased HDL cholesterol levels (β=0.018). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.015). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs7925256 (PAFAH1B2) Source: https://orviva.ai/learn/snps/rs7925256 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Triglyceride levels (OR=0.10). [GWAS Catalog] - **TT** (increased): T allele associated with increased Educational attainment (years of education) (β=0.015). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006442 ## rs7928810 (NUCB2 - NCR3LG1) Source: https://orviva.ai/learn/snps/rs7928810 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Systolic blood pressure (β=0.020). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.016). [GWAS Catalog] References: PMID:26426971; GWAS Catalog; GCST005951 ## rs7932775 (SLC22A12) Source: https://orviva.ai/learn/snps/rs7932775 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Urate levels (UKB data field 30880) (β=0.048). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (BMI, mean, inv-normal transformed) (β=0.030). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479522 ## rs7935166 (CD82) Source: https://orviva.ai/learn/snps/rs7935166 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of IDP dMRI ProbtrackX ICVF unc r (OR=0.11). [GWAS Catalog] - **GG** (typical): G allele associated with increased Substantia nigra iron levels (quantitative susceptibility mapping) (β=0.061). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551871 ## rs79364962 (WNT4 - MIR4418) Source: https://orviva.ai/learn/snps/rs79364962 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.038). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.030). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs7937974 (RN7SKP279 - DNAJB6P1) Source: https://orviva.ai/learn/snps/rs7937974 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.006). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs79391862 (LINC02490 - WDR72) Source: https://orviva.ai/learn/snps/rs79391862 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.082). [GWAS Catalog] - **CC** (typical): C allele associated with increased Low density lipoprotein cholesterol levels (β=0.064). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239658 ## rs79407053 (CTBP1-DT) Source: https://orviva.ai/learn/snps/rs79407053 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Type 2 diabetes (OR=1.11). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.013). [GWAS Catalog] References: PMID:30718926; GWAS Catalog; GCST007847 ## rs7941030 (GLULP3 - UBASH3B) Source: https://orviva.ai/learn/snps/rs7941030 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased HDL cholesterol (β=0.027). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.010). [GWAS Catalog] References: PMID:39375568; GWAS Catalog; GCST90446645 ## rs7941765 (ETS1 - FLI1) Source: https://orviva.ai/learn/snps/rs7941765 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.013). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Systemic lupus erythematosus (OR=1.14). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs79429216 (APOC4-APOC2, APOC4) Source: https://orviva.ai/learn/snps/rs79429216 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Total cholesterol levels (OR=0.15). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Total omega-6 fatty acid levels (OR=0.15). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019501 ## rs7943699 (CREB3L1) Source: https://orviva.ai/learn/snps/rs7943699 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased High-density lipoprotein levels (MTAG) (β=0.021). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (baseline) (β=0.008). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs7943721 (FAM168A - PLEKHB1) Source: https://orviva.ai/learn/snps/rs7943721 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.011). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs7943728 (TMEM258, MYRF) Source: https://orviva.ai/learn/snps/rs7943728 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **AA** (typical / lower): A allele associated with decreased risk of Serum metabolite ratios in chronic kidney disease (OR=0.48). [GWAS Catalog] - **CC** (typical): C allele associated with increased Fatty acid(20:3)_[M-H]1- levels (β=0.065). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060581 ## rs7944584 (MADD) Source: https://orviva.ai/learn/snps/rs7944584 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (increased): A allele associated with increased Fasting blood glucose (BMI interaction) (β=0.001). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Migraine or HOMA-B (OR=1.02). [GWAS Catalog] References: PMID:36808568; GWAS Catalog; GCST90281116 ## rs7945853 (SORL1 - RNU6-256P) Source: https://orviva.ai/learn/snps/rs7945853 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs7947529 (EED) Source: https://orviva.ai/learn/snps/rs7947529 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] - **TT** (increased): T allele associated with increased Age of smoking initiation (MTAG) (β=0.010). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs7953280 (CRADD) Source: https://orviva.ai/learn/snps/rs7953280 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased height (mean, inv-normal transformed) (β=0.088). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Osteoarthritis (OR=1.02). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566795 ## rs7956514 (APOLD1) Source: https://orviva.ai/learn/snps/rs7956514 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Height (β=0.015). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Prostate cancer (OR=1.03). [GWAS Catalog] References: PMID:37945903; GWAS Catalog; GCST90274713 ## rs79570361 (PLG) Source: https://orviva.ai/learn/snps/rs79570361 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.028). [GWAS Catalog] - **AA** (increased): A allele associated with increased Aging (β=0.011). [GWAS Catalog] References: PMID:37550455; GWAS Catalog; GCST90321079 ## rs79598313 (KDF1) Source: https://orviva.ai/learn/snps/rs79598313 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (OR=0.16). [GWAS Catalog] - **TT** (typical): T allele associated with increased Polyunsaturated fatty acids to monounsaturated fatty acids ratio (β=0.060). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501230 ## rs7960282 (PLEKHA5) Source: https://orviva.ai/learn/snps/rs7960282 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.006). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs7964492 (R3HDM2) Source: https://orviva.ai/learn/snps/rs7964492 (imported from public databases, not individually reviewed; category: Drug response; effect allele C) - **AA** (typical): A allele associated with marginally increased risk of Gout (OR=1.15). [GWAS Catalog] - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.033). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428446 ## rs79680080 (TRAFD1) Source: https://orviva.ai/learn/snps/rs79680080 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.43). [GWAS Catalog] - **CC** (typical): C allele associated with increased Cystatin C levels (β=0.045). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132904 ## rs7968682 (HMGA2 - MIR6074) Source: https://orviva.ai/learn/snps/rs7968682 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Type 2 diabetes (β=0.047). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (BMI, mean, inv-normal transformed) (β=0.022). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs7969559 (CPSF6) Source: https://orviva.ai/learn/snps/rs7969559 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.009). [GWAS Catalog] - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs79719017 (UBE2E3) Source: https://orviva.ai/learn/snps/rs79719017 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.021). [GWAS Catalog] - **CC** (increased): C allele associated with increased Smoking cessation (β=0.009). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs79719909 (LINC02468 - PDE3A-AS1) Source: https://orviva.ai/learn/snps/rs79719909 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased High-density lipoprotein levels (β=0.036). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-hip index (β=0.021). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs79723785 (BRSK1) Source: https://orviva.ai/learn/snps/rs79723785 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with slightly decreased risk of Osteoarthritis (hip) (OR=0.85). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Height (standard GWA) (OR=0.53). [GWAS Catalog] References: PMID:37106081; GWAS Catalog; GCST90267284 ## rs7974900 (SSPN-AS1, SSPN) Source: https://orviva.ai/learn/snps/rs7974900 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Male-pattern baldness (β=0.061). [GWAS Catalog] - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.017). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs79780963 (NT5C2) Source: https://orviva.ai/learn/snps/rs79780963 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Systolic blood pressure (MTAG) (β=0.056). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.023). [GWAS Catalog] References: PMID:39537608; GWAS Catalog; GCST90449056 ## rs797900 (GLIS1 - NDC1) Source: https://orviva.ai/learn/snps/rs797900 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (baseline) (β=0.013). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum urate levels (β=0.027). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319906 ## rs7979473 (HNF1A) Source: https://orviva.ai/learn/snps/rs7979473 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased LGALS3 protein levels (β=0.029). [GWAS Catalog] - **AA** (typical): A allele associated with increased Total fatty acid levels (β=0.029). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092987 ## rs7979705 (CSRNP2 - TFCP2) Source: https://orviva.ai/learn/snps/rs7979705 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Putamen iron levels (R2* MRI) (OR=0.12). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of IDP SWI T2star left putamen (OR=0.10). [GWAS Catalog] References: PMID:38789058; GWAS Catalog; GCST90551870 ## rs7980687 (SBNO1) Source: https://orviva.ai/learn/snps/rs7980687 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Height (β=0.039). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Diastolic blood pressure (OR=0.20). [GWAS Catalog] References: PMID:25282103; GWAS Catalog; GCST002647 ## rs7986094 (UBE2L5 - HMGB1) Source: https://orviva.ai/learn/snps/rs7986094 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased Urate levels (β=0.024). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243985 ## rs7988498 (PCDH9) Source: https://orviva.ai/learn/snps/rs7988498 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased Depression (β=0.019). [GWAS Catalog] References: PMID:37464041; GWAS Catalog; GCST90319327 ## rs798943 (CPED1) Source: https://orviva.ai/learn/snps/rs798943 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of Bone mineral density (paediatric, upper limb) (OR=0.20). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Height (standard GWA) (OR=0.11). [GWAS Catalog] References: PMID:24945404; GWAS Catalog; GCST002496 ## rs799157 (MLXIPL) Source: https://orviva.ai/learn/snps/rs799157 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Triglyceride levels (UKB data field 30870) (β=0.079). [GWAS Catalog] - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.017). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012106 ## rs79920061 (SLC17A3) Source: https://orviva.ai/learn/snps/rs79920061 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased High cholesterol (β=0.074). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Hepcidin/ferritin ratio (OR=0.33). [GWAS Catalog] References: PMID:27846281; GWAS Catalog; GCST003944 ## rs8002850 (LINC00540) Source: https://orviva.ai/learn/snps/rs8002850 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.030). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.007). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs80079682 (LINC01485 - CPEB4) Source: https://orviva.ai/learn/snps/rs80079682 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.008). [GWAS Catalog] - **AA** (elevated): A allele associated with moderately increased risk of Extraintestinal manifestations in inflammatory bowel disease (skin manifestat... (OR=1.52). [GWAS Catalog] References: PMID:38490347; GWAS Catalog; GCST90435161 ## rs80080062 (ETV5) Source: https://orviva.ai/learn/snps/rs80080062 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Free Cholesterol in HDL (β=0.030). [GWAS Catalog] - **CC** (increased): C allele associated with increased Educational attainment (years of education) (β=0.012). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501114 ## rs8008910 (NRXN3) Source: https://orviva.ai/learn/snps/rs8008910 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Body mass index (BMI, mean, inv-normal transformed) (β=0.045). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Type 2 diabetes (OR=1.06). [GWAS Catalog] References: PMID:35551307; GWAS Catalog; GCST90132183 ## rs80215559 (SLC17A2) Source: https://orviva.ai/learn/snps/rs80215559 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Total cholesterol levels (β=0.051). [GWAS Catalog] - **TT** (elevated): T allele associated with moderately increased risk of Disorders of iron metabolism (PheCode 275.1) (OR=1.67). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239676 ## rs8022504 (MOK) Source: https://orviva.ai/learn/snps/rs8022504 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.024). [GWAS Catalog] - **CC** (typical): C allele associated with increased Urate levels (β=0.025). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019524 ## rs80234489 (SINHCAF) Source: https://orviva.ai/learn/snps/rs80234489 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with marginally increased risk of Type 2 diabetes (OR=1.11). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.022). [GWAS Catalog] References: PMID:32499647; GWAS Catalog; GCST010118 ## rs80235628 (WDR11 - RPL19P16) Source: https://orviva.ai/learn/snps/rs80235628 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.018). [GWAS Catalog] - **AA** (typical): A allele associated with increased Phospholipids to Total Lipids in Medium HDL percentage (β=0.030). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs8023580 (NR2F2-AS1) Source: https://orviva.ai/learn/snps/rs8023580 (imported from public databases, not individually reviewed; category: Drug response; effect allele C) - **TT** (typical): T allele associated with increased High-density lipoprotein levels (β=0.012). [GWAS Catalog] - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.014). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428448 ## rs8025231 (Metazoa_SRP - TMCO5A) Source: https://orviva.ai/learn/snps/rs8025231 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Insomnia (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Depression (OR=1.03). [GWAS Catalog] References: PMID:29700475; GWAS Catalog; GCST005839 ## rs802734 (THEMIS - PTPRK) Source: https://orviva.ai/learn/snps/rs802734 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Celiac disease (OR=1.17). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Multiple sclerosis (OR=1.10). [GWAS Catalog] References: PMID:21833088; GWAS Catalog; GCST001198 ## rs80282103 (LARP4B) Source: https://orviva.ai/learn/snps/rs80282103 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (typical): T allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.070). [GWAS Catalog] - **AA** (typical): A allele associated with increased high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) (β=0.042). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475356 ## rs8034564 (IRAIN) Source: https://orviva.ai/learn/snps/rs8034564 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.022). [GWAS Catalog] - **AA** (typical): A allele associated with increased Phospholipids in small HDL (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501242 ## rs8040868 (CHRNA3) Source: https://orviva.ai/learn/snps/rs8040868 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Chronic lung diseases including COPD, Emphysema and Bronchitis (OR=0.13). [GWAS Catalog] - **CC** (increased): C allele associated with increased Cigarettes smoked per day (past) (β=0.044). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475272 ## rs8042849 (HYKK) Source: https://orviva.ai/learn/snps/rs8042849 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Parental lifespan (OR=0.44). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Lung cancer (OR=0.18). [GWAS Catalog] References: PMID:30642433; GWAS Catalog; GCST009890 ## rs8043085 (RASGRP1) Source: https://orviva.ai/learn/snps/rs8043085 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.041). [GWAS Catalog] - **TT** (increased): T allele associated with increased Insomnia (β=0.010). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131903 ## rs8047587 (FTO) Source: https://orviva.ai/learn/snps/rs8047587 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **TT** (typical): T allele associated with increased Phospholipids to Total Lipids in Large HDL percentage (β=0.020). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sleep duration (β=0.018). [GWAS Catalog] References: PMID:37384397; GWAS Catalog; GCST90272876 ## rs8049439 (ATXN2L) Source: https://orviva.ai/learn/snps/rs8049439 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Intelligence (MTAG) (β=0.027). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Inflammatory bowel disease (early onset) (OR=1.14). [GWAS Catalog] References: PMID:19915574; GWAS Catalog; GCST000531 ## rs8054556 (TMEM219) Source: https://orviva.ai/learn/snps/rs8054556 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Waist-hip ratio (β=0.018). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.032). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008997 ## rs80576 (APOL3) Source: https://orviva.ai/learn/snps/rs80576 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.029). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total cholesterol levels (β=0.013). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475153 ## rs805770 (GPCPD1 - SHLD1) Source: https://orviva.ai/learn/snps/rs805770 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-hip index (β=0.027). [GWAS Catalog] - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.011). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs8066985 (CALM2P1 - CASC17) Source: https://orviva.ai/learn/snps/rs8066985 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.022). [GWAS Catalog] - **GG** (typical): G allele associated with increased Average diameter for VLDL particles (β=0.010). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501292 ## rs8067056 (MAPT) Source: https://orviva.ai/learn/snps/rs8067056 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical / lower): C allele associated with decreased risk of Systolic blood pressure (OR=0.20). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.025). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479521 ## rs806794 (H2BC7 - H4C5) Source: https://orviva.ai/learn/snps/rs806794 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.060). [GWAS Catalog] - **GG** (typical): G allele associated with increased Linoleic acid to total fatty acids percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501171 ## rs8068318 (TBX2-AS1, TBX2) Source: https://orviva.ai/learn/snps/rs8068318 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased magnesium (Mg, mean, inv-norm transformed) (β=0.084). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (OR=0.25). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475480 ## rs8069451 (FBXL20) Source: https://orviva.ai/learn/snps/rs8069451 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.010). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Childhood asthma with severe exacerbations (OR=0.22). [GWAS Catalog] References: PMID:33328473; GWAS Catalog; GCST011975 ## rs806973 (H2AC6 - H1-4) Source: https://orviva.ai/learn/snps/rs806973 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.034). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.013). [GWAS Catalog] References: PMID:32203549; GWAS Catalog; GCST010244 ## rs8070737 (ZZEF1) Source: https://orviva.ai/learn/snps/rs8070737 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Waist-hip ratio (β=0.016). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.014). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008996 ## rs8071778 (CDK5RAP3 - COPZ2) Source: https://orviva.ai/learn/snps/rs8071778 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Waist-hip ratio (β=0.016). [GWAS Catalog] - **GG** (typical): G allele associated with increased Heel bone mineral density (MTAG) (β=0.030). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008996 ## rs8073455 (NOG - C17orf67) Source: https://orviva.ai/learn/snps/rs8073455 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased What is your height? (cm, inv-normal transformed) (β=0.050). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Osteoarthritis (OR=0.98). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479637 ## rs8073510 (BPTF) Source: https://orviva.ai/learn/snps/rs8073510 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Non-HDL cholesterol levels (β=0.022). [GWAS Catalog] - **AA** (increased): A allele associated with increased Hand grip strength (β=0.003). [GWAS Catalog] References: PMID:29691431; GWAS Catalog; GCST005830 ## rs8074331 (RHOT1) Source: https://orviva.ai/learn/snps/rs8074331 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (typical / lower): A allele associated with slightly decreased risk of Cataracts (OR=0.98). [GWAS Catalog] - **TT** (increased): T allele associated with increased Height (baseline) (β=0.008). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs807624 (DDX1 - LINC01804) Source: https://orviva.ai/learn/snps/rs807624 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.005). [GWAS Catalog] - **TT** (typical): T allele associated with increased Urate levels (β=0.018). [GWAS Catalog] References: PMID:33356394; GWAS Catalog; GCST011119 ## rs8086340 (TNFRSF11A) Source: https://orviva.ai/learn/snps/rs8086340 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Hay fever and/or eczema (OR=1.04). [GWAS Catalog] - **CC** (increased): C allele associated with increased Height (β=0.004). [GWAS Catalog] References: PMID:31361310; GWAS Catalog; GCST009717 ## rs8089364 (RNU4-17P - MC4R) Source: https://orviva.ai/learn/snps/rs8089364 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased High-density lipoprotein levels (MTAG) (β=0.035). [GWAS Catalog] - **CC** (slightly elevated): C allele associated with slightly increased risk of Body mass index (OR=1.24). [GWAS Catalog] References: PMID:23563607; GWAS Catalog; GCST001955 ## rs8096225 (MIR924HG) Source: https://orviva.ai/learn/snps/rs8096225 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] - **CC** (increased): C allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.008). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs8096658 (NFATC1) Source: https://orviva.ai/learn/snps/rs8096658 (imported from public databases, not individually reviewed; category: Drug response; effect allele G) - **CC** (typical / lower): C allele associated with slightly decreased risk of Osteoarthritis (hip) (OR=0.95). [GWAS Catalog] - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.004). [GWAS Catalog] References: PMID:34272381; GWAS Catalog; GCST90103635 ## rs8099917 (IFNL3) Source: https://orviva.ai/learn/snps/rs8099917 (imported from public databases, not individually reviewed; category: Drug response) - **TT** (typical): Genotype TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic and Hepatitis C, Chronic as compared to genotypes GG - **GG** (typical): Genotype GG is associated with increased response to interferons and ribavirin in people with Hepatitis C as compared to genotypes GT + TT. - **T** (typical): Allele T is associated with increased response to peginterferon alfa-2a or peginterferon alfa-2b in people with Hepatitis B, Chronic as compared to allele G. - **G** (typical): Allele G is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to allele T. - **GT** (typical): Genotype GT is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype TT. References: PharmGKB ## rs8105787 (INSR) Source: https://orviva.ai/learn/snps/rs8105787 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Hip index (β=0.023). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglyceride levels (MTAG) (β=0.018). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020026 ## rs812315 (PIP4K2C) Source: https://orviva.ai/learn/snps/rs812315 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Urate levels (β=0.019). [GWAS Catalog] - **GG** (increased): G allele associated with increased Height (β=0.004). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019524 ## rs812925 (USP34) Source: https://orviva.ai/learn/snps/rs812925 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (typical): G allele associated with marginally increased risk of Morning person (OR=1.03). [GWAS Catalog] - **CC** (typical): C allele associated with increased Diastolic blood pressure (β=0.010). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662909 ## rs8134638 (BRWD1) Source: https://orviva.ai/learn/snps/rs8134638 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Triglyceride levels (β=0.012). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.013). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009004 ## rs8176526 (TFPI, CALCRL-AS1) Source: https://orviva.ai/learn/snps/rs8176526 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Phospholipids to Total Lipids in Very Small VLDL percentage (β=0.020). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.008). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs8176693 (ABO) Source: https://orviva.ai/learn/snps/rs8176693 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical / lower): T allele associated with decreased risk of Basal Cell Adhesion Molecule levels (OR=0.41). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.013). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs8178824 (APOH) Source: https://orviva.ai/learn/snps/rs8178824 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.043). [GWAS Catalog] - **TT** (typical): T allele associated with increased Total cholesterol levels (β=0.062). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012106 ## rs8180817 (FOXP2) Source: https://orviva.ai/learn/snps/rs8180817 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Insomnia (β=0.009). [GWAS Catalog] - **GG** (typical): G allele associated with increased Osteoarthrosis (PheCode 740) (β=0.031). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131901 ## rs8180991 (TRIB1AL) Source: https://orviva.ai/learn/snps/rs8180991 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Height (β=0.026). [GWAS Catalog] - **CC** (typical): C allele associated with increased low density lipoprotein cholesterol (LDLC, minimum, inv-norm transformed) (β=0.023). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479662 ## rs8192675 (SLC2A2) Source: https://orviva.ai/learn/snps/rs8192675 (curated, human-reviewed; category: Drug response; effect allele T) - **TT** (increased): Enhanced metformin response. SLC2A2 variant associated with greater HbA1c reduction. - **CT / TC** (typical): Slightly enhanced metformin response. - **CC** (typical): Standard metformin response. References: PMID:27500523; PharmGKB ## rs823099 (Metazoa_SRP - NUCKS1) Source: https://orviva.ai/learn/snps/rs823099 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.008). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.007). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs823114 (NUCKS1 - RAB29) Source: https://orviva.ai/learn/snps/rs823114 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.028). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479632 ## rs823130 (NUCKS1) Source: https://orviva.ai/learn/snps/rs823130 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Hand grip strength (baseline) (β=0.012). [GWAS Catalog] - **TT** (typical): T allele associated with increased QRS duration (β=0.019). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565845 ## rs825453 (RFLNA) Source: https://orviva.ai/learn/snps/rs825453 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **TT** (typical): T allele associated with increased Average diameter for VLDL particles (β=0.030). [GWAS Catalog] - **AA** (increased): A allele associated with increased Gluteofemoral adipose tissue volumes (adjusted for BMI and height) (β=0.062). [GWAS Catalog] References: PMID:35773277; GWAS Catalog; GCST90205205 ## rs838146 (IZUMO1) Source: https://orviva.ai/learn/snps/rs838146 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Free cholesterol in small HDL (β=0.020). [GWAS Catalog] - **CC** (typical): C allele associated with increased Saturated fatty acids levels (UKB data field 23448) (β=0.032). [GWAS Catalog] References: PMID:36764567; GWAS Catalog; GCST90269545 ## rs838147 (IZUMO1) Source: https://orviva.ai/learn/snps/rs838147 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.011). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total fatty acid levels (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501277 ## rs838718 (DGKD) Source: https://orviva.ai/learn/snps/rs838718 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (typical): A allele associated with increased Calcium levels (UKB data field 30680) (β=0.039). [GWAS Catalog] - **GG** (typical): G allele associated with increased Calculus of kidney (PheCode 594.1) (β=0.072). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90480395 ## rs848828 (EFNA5) Source: https://orviva.ai/learn/snps/rs848828 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (increased): A allele associated with increased Insomnia (β=0.007). [GWAS Catalog] - **TT** (typical): T allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs849133 (JAZF1) Source: https://orviva.ai/learn/snps/rs849133 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased Type 2 diabetes (β=0.082). [GWAS Catalog] - **CC** (increased): C allele associated with increased Body mass index (β=0.011). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs849135 (JAZF1) Source: https://orviva.ai/learn/snps/rs849135 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.035). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.100). [GWAS Catalog] References: PMID:30054458; GWAS Catalog; GCST006867 ## rs849138 (JAZF1) Source: https://orviva.ai/learn/snps/rs849138 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.024). [GWAS Catalog] - **AA** (typical): A allele associated with increased Cholesterol to Total Lipids in Large VLDL percentage (β=0.020). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501159 ## rs849142 (JAZF1) Source: https://orviva.ai/learn/snps/rs849142 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Diabetes (β=0.096). [GWAS Catalog] - **TT** (high): T allele associated with substantially increased risk of Eye color (OR=5.93). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468124 ## rs853866 (FOXP1-DT - EIF4E3) Source: https://orviva.ai/learn/snps/rs853866 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (increased): A allele associated with increased Cigarettes smoked per day (MTAG) (β=0.014). [GWAS Catalog] - **TT** (typical): T allele associated with increased Type 2 diabetes (β=0.024). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs860262 (JAZF1) Source: https://orviva.ai/learn/snps/rs860262 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.075). [GWAS Catalog] - **AA** (increased): A allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.011). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs8614 (NUFIP2) Source: https://orviva.ai/learn/snps/rs8614 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs862320 (NFAT5) Source: https://orviva.ai/learn/snps/rs862320 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.020). [GWAS Catalog] - **CC** (increased): C allele associated with increased Adult body size (β=0.014). [GWAS Catalog] References: PMID:32376654; GWAS Catalog; GCST010988 ## rs864745 (JAZF1) Source: https://orviva.ai/learn/snps/rs864745 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical / lower): C allele associated with decreased risk of Type 2 diabetes (OR=0.14). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Blond vs. brown/black hair color (OR=1.07). [GWAS Catalog] References: PMID:39379762; GWAS Catalog; GCST90444202 ## rs869400 (ETV5, DGKG) Source: https://orviva.ai/learn/snps/rs869400 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.030). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total lipids in medium HDL (β=0.020). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs870021 (ZFPM1) Source: https://orviva.ai/learn/snps/rs870021 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased Omega-6 fatty acids to total fatty acids percentage (β=0.010). [GWAS Catalog] - **TT** (typical): T allele associated with increased Phospholipids to total lipids ratio in large HDL (β=0.025). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501225 ## rs8705 (ETS1) Source: https://orviva.ai/learn/snps/rs8705 (imported from public databases, not individually reviewed; category: Drug response; effect allele A) - **GG** (typical): G allele associated with increased Chronic renal failure [CKD] (PheCode 585.3) (β=0.043). [GWAS Catalog] - **AA** (typical): A allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.014). [GWAS Catalog] References: PMID:39256582; GWAS Catalog; GCST90428446 ## rs874040 (LINC02357 - RBPJ) Source: https://orviva.ai/learn/snps/rs874040 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **CC** (typical): C allele associated with marginally increased risk of Rheumatoid arthritis (OR=1.16). [GWAS Catalog] - **GG** (increased): G allele associated with increased Gluteofemoral adipose tissue volumes (adjusted for BMI and height) (β=0.045). [GWAS Catalog] References: PMID:35773277; GWAS Catalog; GCST90205205 ## rs874628 (MPV17L2) Source: https://orviva.ai/learn/snps/rs874628 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Height (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased Multiple sclerosis (MTAG) (β=0.057). [GWAS Catalog] References: PMID:40262193; GWAS Catalog; GCST90570210 ## rs8756 (HMGA2) Source: https://orviva.ai/learn/snps/rs8756 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (β=0.057). [GWAS Catalog] - **AA** (typical): A allele associated with increased Triglyceride levels (β=0.010). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs876531 (BOK) Source: https://orviva.ai/learn/snps/rs876531 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.016). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Osteoarthritis (hip) (OR=0.96). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs879620 (ADCY9) Source: https://orviva.ai/learn/snps/rs879620 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.029). [GWAS Catalog] - **CC** (typical): C allele associated with increased Morbid obesity (PheCode 278.11) (β=0.058). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs880315 (CASZ1) Source: https://orviva.ai/learn/snps/rs880315 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased systolic blood pressure (SBP, mean, inv-normal transformed) (β=0.042). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Mean arterial pressure (BMI unadjusted) (OR=0.69). [GWAS Catalog] References: PMID:39048560; GWAS Catalog; GCST90335168 ## rs884977 (CHLSN) Source: https://orviva.ai/learn/snps/rs884977 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with increased High-density lipoprotein levels (β=0.033). [GWAS Catalog] - **CC** (typical): C allele associated with increased Omega-3 fatty acids levels (β=0.020). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662894 ## rs887912 (LINC01122) Source: https://orviva.ai/learn/snps/rs887912 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.020). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Obesity (OR=1.07). [GWAS Catalog] References: PMID:23563607; GWAS Catalog; GCST001953 ## rs888194 (UBE3B - MMAB) Source: https://orviva.ai/learn/snps/rs888194 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **CC** (typical): C allele associated with increased Total cholesterol levels (β=0.020). [GWAS Catalog] - **GG** (typical): G allele associated with increased Drinks per week (β=0.005). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243984 ## rs8887 (PLIN4, HDGFL2) Source: https://orviva.ai/learn/snps/rs8887 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased HDL cholesterol levels (UKB data field 30760) (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.018). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs890235 (LINC01289, LINC01414) Source: https://orviva.ai/learn/snps/rs890235 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Free Cholesterol to Total Lipids in Medium LDL percentage (β=0.010). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.010). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009003 ## rs894344 (ZFAT-AS1, ZFAT) Source: https://orviva.ai/learn/snps/rs894344 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.021). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Systolic blood pressure (OR=0.26). [GWAS Catalog] References: PMID:28135244; GWAS Catalog; GCST004279 ## rs897804 (HOOK2) Source: https://orviva.ai/learn/snps/rs897804 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Atrial fibrillation (β=0.024). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.009). [GWAS Catalog] References: PMID:40645996; GWAS Catalog; GCST90624411 ## rs900400 (LINC00880) Source: https://orviva.ai/learn/snps/rs900400 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased triglyceride (mean, inv-norm transformed) (β=0.035). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.025). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012230 ## rs900776 (DMTN) Source: https://orviva.ai/learn/snps/rs900776 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Low density lipoprotein cholesterol levels (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Calcium (maximum, inv-norm transformed) (β=0.025). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239658 ## rs904592 (RARB) Source: https://orviva.ai/learn/snps/rs904592 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.013). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs905938 (DCST2) Source: https://orviva.ai/learn/snps/rs905938 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.017). [GWAS Catalog] - **TT** (typical): T allele associated with increased Venous thromboembolism (β=0.035). [GWAS Catalog] References: PMID:36154123; GWAS Catalog; GCST90797305 ## rs907866 (RPS16P2 - RN7SL140P) Source: https://orviva.ai/learn/snps/rs907866 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical): A allele associated with increased Total cholesterol levels (β=0.025). [GWAS Catalog] - **GG** (typical): G allele associated with increased Polyunsaturated fatty acid levels (β=0.039). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092939 ## rs910187 (ZMYND8) Source: https://orviva.ai/learn/snps/rs910187 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Insomnia (β=0.008). [GWAS Catalog] - **GG** (typical): G allele associated with increased Depression (β=0.020). [GWAS Catalog] References: PMID:37464041; GWAS Catalog; GCST90319327 ## rs913678 (LINC01271 - RN7SL636P) Source: https://orviva.ai/learn/snps/rs913678 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **TT** (increased): T allele associated with increased Height (β=0.011). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Inflammatory bowel disease (OR=1.07). [GWAS Catalog] References: PMID:26192919; GWAS Catalog; GCST003043 ## rs913930 (TLR4) Source: https://orviva.ai/learn/snps/rs913930 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with marginally increased risk of Depression (OR=1.02). [GWAS Catalog] - **AA** (increased): A allele associated with increased Insomnia (β=0.007). [GWAS Catalog] References: PMID:30718901; GWAS Catalog; GCST007342 ## rs917191 (SEMA3C - EIF4EP4) Source: https://orviva.ai/learn/snps/rs917191 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Waist-hip index (β=0.024). [GWAS Catalog] - **CC** (typical): C allele associated with increased Atrial fibrillation (β=0.026). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020027 ## rs917997 (IL18RAP - SLC9A4) Source: https://orviva.ai/learn/snps/rs917997 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **TT** (typical): T allele associated with marginally increased risk of Inflammatory bowel disease (OR=1.10). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Celiac disease (OR=1.19). [GWAS Catalog] References: PMID:23128233; GWAS Catalog; GCST001725 ## rs9262126 (ATAT1) Source: https://orviva.ai/learn/snps/rs9262126 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical / lower): A allele associated with decreased risk of Diastolic blood pressure (OR=0.22). [GWAS Catalog] - **GG** (increased): G allele associated with increased Cognitive function (baseline) (β=0.015). [GWAS Catalog] References: PMID:35762941; GWAS Catalog; GCST90132904 ## rs9262143 (PPP1R18) Source: https://orviva.ai/learn/snps/rs9262143 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Childhood body mass index (β=0.024). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Chronic obstructive pulmonary disease (OR=1.11). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301649 ## rs926552 (GABBR1) Source: https://orviva.ai/learn/snps/rs926552 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (β=0.018). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Major depressive disorder (lifetime) (OR=1.11). [GWAS Catalog] References: PMID:32231276; GWAS Catalog; GCST010009 ## rs9266184 (HLA-B) Source: https://orviva.ai/learn/snps/rs9266184 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.011). [GWAS Catalog] - **GG** (typical / lower): G allele associated with slightly decreased risk of Basal cell carcinoma (OR=0.92). [GWAS Catalog] References: PMID:38182794; GWAS Catalog; GCST90328132 ## rs9266255 (HLA-B) Source: https://orviva.ai/learn/snps/rs9266255 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Hip circumference adjusted for BMI (β=0.028). [GWAS Catalog] - **GG** (typical): G allele associated with increased Free cholesterol to total lipids ratio in small LDL (β=0.027). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092961 ## rs9266257 (HLA-B) Source: https://orviva.ai/learn/snps/rs9266257 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Free cholesterol to total lipids ratio in large LDL (β=0.037). [GWAS Catalog] - **CC** (increased): C allele associated with increased Cognitive performance (MTAG) (β=0.018). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092861 ## rs9266834 (MICA - LINC01149) Source: https://orviva.ai/learn/snps/rs9266834 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (typical): A allele associated with increased Omega-6 fatty acid percentage of total fatty acids (β=0.041). [GWAS Catalog] - **TT** (typical): T allele associated with increased Cholesteryl esters to total lipids ratio in IDL (β=0.051). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092834 ## rs9267650 (NEU1) Source: https://orviva.ai/learn/snps/rs9267650 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (increased): A allele associated with increased Educational attainment (β=0.015). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Basal cell carcinoma (OR=1.17). [GWAS Catalog] References: PMID:27539887; GWAS Catalog; GCST003726 ## rs9267658 (EHMT2-AS1, SLC44A4) Source: https://orviva.ai/learn/snps/rs9267658 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.073). [GWAS Catalog] - **TT** (increased): T allele associated with increased Educational attainment (years of education) (β=0.014). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs9271406 (HLA-DRB1 - HLA-DQA1) Source: https://orviva.ai/learn/snps/rs9271406 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased A body shape index (β=0.029). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.037). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs9275572 (MTCO3P1 - HLA-DQB3) Source: https://orviva.ai/learn/snps/rs9275572 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (elevated): G allele associated with significantly increased risk of Alopecia areata (OR=2.21). [GWAS Catalog] - **AA** (elevated): A allele associated with moderately increased risk of Systemic lupus erythematosus (OR=1.74). [GWAS Catalog] References: PMID:20596022; GWAS Catalog; GCST000719 ## rs9276964 (BRD2 - HLA-DOA) Source: https://orviva.ai/learn/snps/rs9276964 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical / lower): G allele associated with decreased risk of Coeliac disease (OR=0.39). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (baseline) (β=0.010). [GWAS Catalog] References: PMID:40374629; GWAS Catalog; GCST90565843 ## rs9282641 (CD86) Source: https://orviva.ai/learn/snps/rs9282641 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (typical): A allele associated with increased Calcium levels (β=0.033). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Multiple sclerosis (OR=1.21). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019500 ## rs9302604 (CYB5B - NFAT5) Source: https://orviva.ai/learn/snps/rs9302604 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.010). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Coronary artery disease (OR=0.97). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs9304381 (LIPG - SMUG1P1) Source: https://orviva.ai/learn/snps/rs9304381 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **TT** (typical): T allele associated with increased Phospholipids in small HDL (β=0.090). [GWAS Catalog] - **CC** (typical): C allele associated with increased Polyunsaturated fatty acid levels (β=0.073). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092939 ## rs9305545 (KCNE2, LINC00310, MRPS6) Source: https://orviva.ai/learn/snps/rs9305545 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **AA** (typical): A allele associated with increased Takes medication for coronary artery/ coronary heart disease? (β=0.095). [GWAS Catalog] - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.016). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479542 ## rs9311676 (PDHB - KCTD6) Source: https://orviva.ai/learn/snps/rs9311676 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with marginally increased risk of Systemic lupus erythematosus (OR=1.17). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist circumference adjusted for body mass index (β=0.017). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012226 ## rs9313754 (MXD3, RAB24) Source: https://orviva.ai/learn/snps/rs9313754 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Waist circumference adjusted for body mass index (β=0.027). [GWAS Catalog] - **CC** (typical): C allele associated with increased Serum urate levels (β=0.023). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020029 ## rs9315010 (UBE2L5 - HMGB1) Source: https://orviva.ai/learn/snps/rs9315010 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased Serum urate levels (β=0.018). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319904 ## rs9329342 (BEND7) Source: https://orviva.ai/learn/snps/rs9329342 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs9330459 (SLC2A6 - MYMK) Source: https://orviva.ai/learn/snps/rs9330459 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Height (β=0.026). [GWAS Catalog] - **GG** (typical): G allele associated with increased Total cholesterol levels (β=0.044). [GWAS Catalog] References: PMID:33462484; GWAS Catalog; GCST90019501 ## rs9330813 (WNT7B) Source: https://orviva.ai/learn/snps/rs9330813 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Spherical equivalent (β=0.090). [GWAS Catalog] - **AA** (increased): A allele associated with increased Male-pattern baldness (β=0.024). [GWAS Catalog] References: PMID:32352494; GWAS Catalog; GCST010378 ## rs9332131 (CYP2C9) Source: https://orviva.ai/learn/snps/rs9332131 (curated, human-reviewed; category: Drug response; effect allele delA) - **delA** (reduced): CYP2C9*6 carrier (818delA frameshift). Loss of CYP2C9 function; affects warfarin, phenytoin metabolism. References: CPIC; PharmVar ## rs9332239 (CYP2C9) Source: https://orviva.ai/learn/snps/rs9332239 (curated, human-reviewed; category: Drug response; effect allele T) - **TT** (reduced): CYP2C9*12 homozygous (P489S). Decreased CYP2C9 function. - **CT / TC** (reduced): CYP2C9*12 carrier. Decreased function allele. - **CC** (typical): No CYP2C9*12 variant detected. References: CPIC; PharmVar ## rs933561 (ZNF423) Source: https://orviva.ai/learn/snps/rs933561 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.014). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs934197 (APOB - TDRD15) Source: https://orviva.ai/learn/snps/rs934197 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased LDL cholesterol levels (β=0.083). [GWAS Catalog] - **AA** (typical): A allele associated with increased Estimated description of fatty acid chain length not actual carbon number (β=0.042). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90301958 ## rs9348866 (MICA-AS1) Source: https://orviva.ai/learn/snps/rs9348866 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.026). [GWAS Catalog] - **AA** (typical): A allele associated with increased Phospholipids to total lipids ratio in large VLDL (β=0.030). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012227 ## rs9364386 (KIF25) Source: https://orviva.ai/learn/snps/rs9364386 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.012). [GWAS Catalog] - **TT** (typical): T allele associated with increased Heel bone mineral density (β=0.030). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs9367218 (SUPT3H) Source: https://orviva.ai/learn/snps/rs9367218 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Hippocampus iron levels (R2* MRI) (β=0.045). [GWAS Catalog] - **AA** (increased): A allele associated with increased IDP dMRI TBSS ISOVF Corticospinal tract R (β=0.063). [GWAS Catalog] References: PMID:33875891; GWAS Catalog; GCST90004483 ## rs9370243 (LRRC1 - MLIP) Source: https://orviva.ai/learn/snps/rs9370243 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.039). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist-hip ratio (β=0.020). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008996 ## rs937482 (GAPVD1) Source: https://orviva.ai/learn/snps/rs937482 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Body mass index (β=0.013). [GWAS Catalog] - **GG** (typical): G allele associated with increased Hypothyroidism (β=0.034). [GWAS Catalog] References: PMID:41238958; GWAS Catalog; GCST90572791 ## rs9375477 (RPS4XP9 - RSPO3) Source: https://orviva.ai/learn/snps/rs9375477 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (baseline) (β=0.019). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.047). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs9376164 (PDE7B) Source: https://orviva.ai/learn/snps/rs9376164 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.023). [GWAS Catalog] - **AA** (increased): A allele associated with increased Height (β=0.012). [GWAS Catalog] References: PMID:30598549; GWAS Catalog; GCST006979 ## rs9378248 (HLA-B) Source: https://orviva.ai/learn/snps/rs9378248 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **GG** (typical): G allele associated with increased Triglyceride levels (β=0.032). [GWAS Catalog] - **AA** (typical): A allele associated with increased Monounsaturated fatty acids to total fatty acids percentage (β=0.030). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501219 ## rs9379084 (RREB1) Source: https://orviva.ai/learn/snps/rs9379084 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Standing height (UKB data field 50) (β=0.028). [GWAS Catalog] - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.071). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs9383605 (ESR1) Source: https://orviva.ai/learn/snps/rs9383605 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **AA** (typical): A allele associated with marginally increased risk of Osteoarthritis of the hip or knee (OR=1.03). [GWAS Catalog] - **TT** (increased): T allele associated with increased Hip circumference adjusted for BMI (β=0.019). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020028 ## rs9384 (GCDH, SYCE2) Source: https://orviva.ai/learn/snps/rs9384 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.040). [GWAS Catalog] - **TT** (increased): T allele associated with increased Standing height (UKB data field 50) (β=0.008). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs9392172 (RPL29P1 - BMP6) Source: https://orviva.ai/learn/snps/rs9392172 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **CC** (typical / lower): C allele associated with decreased risk of height (mean, inv-normal transformed) (OR=0.10). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Systolic blood pressure (OR=0.15). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310294 ## rs9394363 (STK38 - SRSF3) Source: https://orviva.ai/learn/snps/rs9394363 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (β=0.007). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Glaucoma (primary open-angle) (OR=0.91). [GWAS Catalog] References: PMID:33627673; GWAS Catalog; GCST011439 ## rs9396861 (RNF144B) Source: https://orviva.ai/learn/snps/rs9396861 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Hand grip strength (baseline) (β=0.011). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Finger osteoarthritis (OR=1.13). [GWAS Catalog] References: PMID:34450027; GWAS Catalog; GCST90034528 ## rs9398803 (CENPW - MIR588) Source: https://orviva.ai/learn/snps/rs9398803 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Type 2 diabetes (β=0.054). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Male-pattern baldness (OR=0.12). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs941823 (LINC00598) Source: https://orviva.ai/learn/snps/rs941823 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.006). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Inflammatory bowel disease (OR=1.07). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs9435731 (MFAP2) Source: https://orviva.ai/learn/snps/rs9435731 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Height (β=0.038). [GWAS Catalog] - **CC** (typical): C allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.014). [GWAS Catalog] References: PMID:37069358; GWAS Catalog; GCST90244098 ## rs9442514 (SPSB1) Source: https://orviva.ai/learn/snps/rs9442514 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Height (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with marginally increased risk of Hay fever and/or eczema (OR=1.04). [GWAS Catalog] References: PMID:31361310; GWAS Catalog; GCST009717 ## rs9442571 (H6PD - SPSB1) Source: https://orviva.ai/learn/snps/rs9442571 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased height (minimum, inv-normal transformed) (β=0.096). [GWAS Catalog] - **AA** (typical): A allele associated with increased Venous thromboembolism (β=0.050). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475365 ## rs945211 (COL16A1 - ADGRB2) Source: https://orviva.ai/learn/snps/rs945211 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.007). [GWAS Catalog] - **CC** (typical): C allele associated with increased Primary open angle glaucoma (MTAG) (β=0.051). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs9457827 (IGF2R) Source: https://orviva.ai/learn/snps/rs9457827 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **TT** (typical / lower): T allele associated with decreased risk of Phospholipids to total lipids in medium LDL percentage (UKB data field 23619) (OR=0.17). [GWAS Catalog] - **AA** (increased): A allele associated with increased Parental longevity (father's age at death) (β=0.030). [GWAS Catalog] References: PMID:31484785; GWAS Catalog; GCST009447 ## rs9469220 (HLA-DQB1 - MTCO3P1) Source: https://orviva.ai/learn/snps/rs9469220 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased A body shape index (β=0.025). [GWAS Catalog] - **GG** (typical): G allele associated with increased Squamous cell carcinoma (PheCode 172.22) (β=0.096). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479796 ## rs947091 (LINC02644 - ZNF438) Source: https://orviva.ai/learn/snps/rs947091 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Heel bone mineral density (β=0.042). [GWAS Catalog] - **AA** (increased): A allele associated with increased Educational attainment (β=0.008). [GWAS Catalog] References: PMID:35361970; GWAS Catalog; GCST90105038 ## rs9471935 (BICRAL - RPL7L1) Source: https://orviva.ai/learn/snps/rs9471935 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.009). [GWAS Catalog] - **AA** (increased): A allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.007). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs9476310 (GAPDHP41 - RBBP4P3) Source: https://orviva.ai/learn/snps/rs9476310 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (typical): T allele associated with marginally increased risk of Chronotype (OR=1.03). [GWAS Catalog] - **CC** (typical): C allele associated with increased Serum 25-Hydroxyvitamin D levels (conditioned on BMI) (β=0.012). [GWAS Catalog] References: PMID:30696823; GWAS Catalog; GCST007576 ## rs9479509 (RGS17) Source: https://orviva.ai/learn/snps/rs9479509 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Body mass index (β=0.014). [GWAS Catalog] - **GG** (typical / lower): G allele associated with decreased risk of Diastolic blood pressure (OR=0.12). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009004 ## rs9480889 (ARMC2) Source: https://orviva.ai/learn/snps/rs9480889 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Triglyceride levels (UKB data field 30870) (β=0.016). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.021). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST90020025 ## rs9486916 (FOXO3 - LINC00222) Source: https://orviva.ai/learn/snps/rs9486916 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased height (mean, inv-normal transformed) (β=0.029). [GWAS Catalog] - **TT** (typical / lower): T allele associated with decreased risk of Systolic blood pressure (OR=0.21). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310294 ## rs9488822 (FRK) Source: https://orviva.ai/learn/snps/rs9488822 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **AA** (typical): A allele associated with increased Polyunsaturated fatty acids (β=0.028). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Cholesterol, total (OR=1.18). [GWAS Catalog] References: PMID:20686565; GWAS Catalog; GCST000760 ## rs9491689 (RPS4XP9 - RSPO3) Source: https://orviva.ai/learn/snps/rs9491689 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **CC** (typical): C allele associated with increased Heel bone mineral density (β=0.054). [GWAS Catalog] - **AA** (typical / lower): A allele associated with decreased risk of Height (standard GWA) (OR=0.12). [GWAS Catalog] References: PMID:37106081; GWAS Catalog; GCST90267284 ## rs9501744 (FOXC1 - GMDS) Source: https://orviva.ai/learn/snps/rs9501744 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.013). [GWAS Catalog] - **CC** (high): C allele associated with substantially increased risk of Coronary artery disease (MTAG) (OR=5.82). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs951740 (PTPRF) Source: https://orviva.ai/learn/snps/rs951740 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.017). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.014). [GWAS Catalog] References: PMID:36477530; GWAS Catalog; GCST90243968 ## rs9517908 (CLYBL) Source: https://orviva.ai/learn/snps/rs9517908 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Smoking initiation (β=0.012). [GWAS Catalog] - **GG** (typical): G allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.010). [GWAS Catalog] References: PMID:34446935; GWAS Catalog; GCST90061435 ## rs9527706 (PCDH17 - RNA5SP30) Source: https://orviva.ai/learn/snps/rs9527706 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (typical): G allele associated with increased Free cholesterol in large HDL (β=0.010). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (MTAG) (β=0.013). [GWAS Catalog] References: PMID:36376304; GWAS Catalog; GCST90179150 ## rs953492 (SDCCAG8) Source: https://orviva.ai/learn/snps/rs953492 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical / lower): G allele associated with decreased risk of SDCCAG8 protein levels (OR=0.18). [GWAS Catalog] - **AA** (typical): A allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.003). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90470560 ## rs9556403 (TGDS) Source: https://orviva.ai/learn/snps/rs9556403 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.005). [GWAS Catalog] - **AA** (typical): A allele associated with increased Phospholipids to total lipids ratio in medium HDL (β=0.032). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs9559793 (COL4A2) Source: https://orviva.ai/learn/snps/rs9559793 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.023). [GWAS Catalog] - **AA** (increased): A allele associated with increased Male-pattern baldness (β=0.033). [GWAS Catalog] References: PMID:37069358; GWAS Catalog; GCST90244098 ## rs9564268 (STARP1 - HNRNPA3P5) Source: https://orviva.ai/learn/snps/rs9564268 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (BMI, maximum, inv-normal transformed) (β=0.028). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.024). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010557 ## rs9568867 (ZNF646P1 - LINC00558) Source: https://orviva.ai/learn/snps/rs9568867 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (BMI, minimum, inv-normal transformed) (β=0.040). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Obesity (OR=1.15). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479523 ## rs9584870 (STK24-AS1 - NUS1P4) Source: https://orviva.ai/learn/snps/rs9584870 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **CC** (typical): C allele associated with increased Cholesteryl Esters to Total Lipids in Medium VLDL percentage (β=0.010). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.012). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501209 ## rs9591325 (DLEU1) Source: https://orviva.ai/learn/snps/rs9591325 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (slightly elevated): T allele associated with slightly increased risk of Multiple sclerosis (OR=1.23). [GWAS Catalog] - **CC** (increased): C allele associated with increased Waist-hip index (β=0.043). [GWAS Catalog] References: PMID:34021172; GWAS Catalog; GCST012228 ## rs960596 (RBX1 - Y_RNA) Source: https://orviva.ai/learn/snps/rs960596 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased LDL cholesterol levels (β=0.013). [GWAS Catalog] - **TT** (typical): T allele associated with increased Serum 25-Hydroxyvitamin D levels (β=0.012). [GWAS Catalog] References: PMID:32059762; GWAS Catalog; GCST010144 ## rs9610329 (MB - APOL6) Source: https://orviva.ai/learn/snps/rs9610329 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **TT** (typical): T allele associated with increased Triglycerides to Total Lipids in Large HDL percentage (β=0.010). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.006). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs9610638 (MPST - KCTD17) Source: https://orviva.ai/learn/snps/rs9610638 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of transferrin saturation (TSAT, mean, inv-norm transformed) (OR=0.17). [GWAS Catalog] - **CC** (increased): C allele associated with increased IDP SWI T2star left putamen (β=0.081). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90476443 ## rs9615723 (EPIC1) Source: https://orviva.ai/learn/snps/rs9615723 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.012). [GWAS Catalog] - **TT** (typical): T allele associated with increased Diastolic blood pressure (β=0.010). [GWAS Catalog] References: PMID:37280435; GWAS Catalog; GCST90301650 ## rs962369 (BDNF) Source: https://orviva.ai/learn/snps/rs962369 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Body mass index (β=0.021). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Diastolic blood pressure (OR=0.15). [GWAS Catalog] References: PMID:38689001; GWAS Catalog; GCST90310295 ## rs962961 (OTX2-AS1, OTX2) Source: https://orviva.ai/learn/snps/rs962961 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (typical): C allele associated with marginally increased risk of Chronotype (OR=1.02). [GWAS Catalog] - **TT** (typical): T allele associated with increased Alcohol consumption (drinks per week) (β=0.016). [GWAS Catalog] References: PMID:30696823; GWAS Catalog; GCST007576 ## rs963292 (NOG - C17orf67) Source: https://orviva.ai/learn/snps/rs963292 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.019). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Osteoarthritis of the hip or knee (OR=0.97). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566799 ## rs9636202 (RN7SL513P - PGPEP1) Source: https://orviva.ai/learn/snps/rs9636202 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with marginally increased risk of Chronotype (OR=1.03). [GWAS Catalog] - **AA** (typical): A allele associated with increased Atrial fibrillation (β=0.023). [GWAS Catalog] References: PMID:40645996; GWAS Catalog; GCST90624411 ## rs963778 (NOVA1) Source: https://orviva.ai/learn/snps/rs963778 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Smoking initiation (β=0.007). [GWAS Catalog] - **AA** (typical): A allele associated with increased Chronic obstructive pulmonary disease liability (machine learning-based score) (β=0.015). [GWAS Catalog] References: PMID:37069358; GWAS Catalog; GCST90244098 ## rs963837 (MPPED2-AS1 - DCDC1) Source: https://orviva.ai/learn/snps/rs963837 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (typical): C allele associated with increased Cystatin C levels (β=0.039). [GWAS Catalog] - **TT** (typical): T allele associated with increased Serum urate levels (β=0.035). [GWAS Catalog] References: PMID:38658550; GWAS Catalog; GCST90319904 ## rs964184 (ZPR1) Source: https://orviva.ai/learn/snps/rs964184 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **GG** (typical / lower): G allele associated with decreased risk of Triglyceride levels in small HDL (OR=0.23). [GWAS Catalog] - **CC** (typical / lower): C allele associated with decreased risk of Monounsaturated fatty acids (16:1, 18:1) levels (OR=0.20). [GWAS Catalog] References: PMID:38448586; GWAS Catalog; GCST90302055 ## rs9647379 (FNDC3B) Source: https://orviva.ai/learn/snps/rs9647379 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **GG** (increased): G allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.014). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Hypertrophic cardiomyopathy (OR=1.20). [GWAS Catalog] References: PMID:33495596; GWAS Catalog; GCST011211 ## rs9653442 (LINC01104) Source: https://orviva.ai/learn/snps/rs9653442 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Educational attainment (years of education) (β=0.019). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Rheumatoid arthritis (OR=1.11). [GWAS Catalog] References: PMID:30038396; GWAS Catalog; GCST006442 ## rs966541 (ERGIC2, FAR2) Source: https://orviva.ai/learn/snps/rs966541 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **AA** (increased): A allele associated with increased height (minimum, inv-normal transformed) (β=0.026). [GWAS Catalog] - **GG** (typical): G allele associated with increased Non-HDL cholesterol levels (β=0.014). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479636 ## rs968567 (FADS1, FADS2) Source: https://orviva.ai/learn/snps/rs968567 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **TT** (typical): T allele associated with increased Plasma 1-palmitoyl-2-dihomo-linolenoyl-GPC (16:0/20:3n3 or 6)* levels in chro... (β=0.086). [GWAS Catalog] - **AA** (typical): A allele associated with increased Fatty acid(20:3)_[M-H]1- levels (β=0.049). [GWAS Catalog] References: PMID:34503513; GWAS Catalog; GCST90060581 ## rs9697210 (PKN3) Source: https://orviva.ai/learn/snps/rs9697210 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.016). [GWAS Catalog] - **AA** (typical): A allele associated with increased Hypothyroidism (β=0.063). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs971681 (PRKD1) Source: https://orviva.ai/learn/snps/rs971681 (imported from public databases, not individually reviewed; category: Nutrition; effect allele C) - **CC** (typical): C allele associated with increased magnesium (Mg, minimum, inv-norm transformed) (β=0.024). [GWAS Catalog] - **TT** (high): T allele associated with substantially increased risk of Intelligence (OR=5.97). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479680 ## rs972283 (KLF14 - LINC-PINT) Source: https://orviva.ai/learn/snps/rs972283 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Triglycerides (β=0.033). [GWAS Catalog] - **GG** (increased): G allele associated with increased circulating leptin levels adjusted for BMI (β=0.056). [GWAS Catalog] References: PMID:32917775; GWAS Catalog; GCST90007322 ## rs973579 (RASIP1) Source: https://orviva.ai/learn/snps/rs973579 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **GG** (typical): G allele associated with increased Alcohol consumption (drinks per week) (MTAG) (β=0.016). [GWAS Catalog] - **AA** (typical): A allele associated with increased triglyceride (maximum, inv-norm transformed) (β=0.024). [GWAS Catalog] References: PMID:32451486; GWAS Catalog; GCST010543 ## rs9738226 (HNF1A) Source: https://orviva.ai/learn/snps/rs9738226 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Low-density lipoprotein levels (MTAG) (β=0.027). [GWAS Catalog] - **GG** (increased): G allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.019). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012108 ## rs9738836 (SLC15A4) Source: https://orviva.ai/learn/snps/rs9738836 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Height (β=0.005). [GWAS Catalog] - **AA** (typical): A allele associated with increased Systemic lupus erythematosus (MTAG) (β=0.057). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs97458 (APOB - TDRD15) Source: https://orviva.ai/learn/snps/rs97458 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Cholesterol to total lipids ratio in large HDL (β=0.035). [GWAS Catalog] - **AA** (increased): A allele associated with increased Educational attainment (MTAG) (β=0.008). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092845 ## rs975935 (PRKAR2B) Source: https://orviva.ai/learn/snps/rs975935 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **GG** (typical): G allele associated with increased Free Cholesterol to Total Lipids in Large VLDL percentage (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Insomnia (β=0.006). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131901 ## rs979532 (LCORL) Source: https://orviva.ai/learn/snps/rs979532 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Height (baseline) (β=0.040). [GWAS Catalog] - **TT** (typical): T allele associated with increased Type 2 diabetes (β=0.035). [GWAS Catalog] References: PMID:38685053; GWAS Catalog; GCST90693212 ## rs9800013 (MIR4456 - CEP72-DT) Source: https://orviva.ai/learn/snps/rs9800013 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (typical): G allele associated with increased CBLIF protein levels (β=0.059). [GWAS Catalog] - **AA** (typical / lower): A allele associated with slightly decreased risk of Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding me... (OR=0.96). [GWAS Catalog] References: PMID:33608531; GWAS Catalog; GCST011500 ## rs9811247 (ULK4) Source: https://orviva.ai/learn/snps/rs9811247 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (typical / lower): T allele associated with decreased risk of Diastolic blood pressure (BMI unadjusted) (OR=0.52). [GWAS Catalog] - **GG** (typical): G allele associated with increased Diastolic blood pressure (β=0.040). [GWAS Catalog] References: PMID:39048560; GWAS Catalog; GCST90335164 ## rs9812319 (STAG1) Source: https://orviva.ai/learn/snps/rs9812319 (imported from public databases, not individually reviewed; category: Drug response; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.024). [GWAS Catalog] - **CC** (typical): C allele associated with increased Estimated glomerular filtration rate (cystatin c) (β=0.004). [GWAS Catalog] References: PMID:34272381; GWAS Catalog; GCST90103635 ## rs9843653 (ACTL11P - MST1R) Source: https://orviva.ai/learn/snps/rs9843653 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Body mass index (β=0.035). [GWAS Catalog] - **CC** (typical): C allele associated with increased High density lipoprotein cholesterol levels (β=0.019). [GWAS Catalog] References: PMID:40436827; GWAS Catalog; GCST90662912 ## rs9848399 (SNX4) Source: https://orviva.ai/learn/snps/rs9848399 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.014). [GWAS Catalog] - **AA** (typical): A allele associated with increased Adiposity (multivariate analysis) (β=0.018). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs9862203 (ALDH1L1-AS2 - KLF15) Source: https://orviva.ai/learn/snps/rs9862203 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Height (β=0.006). [GWAS Catalog] - **GG** (typical): G allele associated with increased Low density lipoprotein cholesterol levels (β=0.013). [GWAS Catalog] References: PMID:34887591; GWAS Catalog; GCST90239658 ## rs9862599 (EZRP1 - ALCAM) Source: https://orviva.ai/learn/snps/rs9862599 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **TT** (increased): T allele associated with increased Educational attainment (β=0.012). [GWAS Catalog] - **GG** (slightly elevated): G allele associated with slightly increased risk of Breast cancer (OR=1.22). [GWAS Catalog] References: PMID:31757997; GWAS Catalog; GCST009665 ## rs9875338 (SYN2 - GSTM5P1) Source: https://orviva.ai/learn/snps/rs9875338 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **AA** (increased): A allele associated with increased Waist-hip index (β=0.024). [GWAS Catalog] - **GG** (typical): G allele associated with increased High cholesterol (β=0.034). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90479547 ## rs9878347 (ZBTB38 - KRT18P35) Source: https://orviva.ai/learn/snps/rs9878347 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **CC** (increased): C allele associated with increased Hip circumference adjusted for BMI (β=0.030). [GWAS Catalog] - **AA** (typical): A allele associated with increased Phospholipid levels in small HDL (β=0.025). [GWAS Catalog] References: PMID:35213538; GWAS Catalog; GCST90092952 ## rs9878908 (GSTM5P1 - PPARG) Source: https://orviva.ai/learn/snps/rs9878908 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Waist-hip ratio (β=0.019). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Autoimmune thyroid disease (OR=1.08). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST008996 ## rs9884482 (TET2) Source: https://orviva.ai/learn/snps/rs9884482 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Free Cholesterol to Total Lipids in Very Large HDL percentage (β=0.020). [GWAS Catalog] - **TT** (increased): T allele associated with increased Insomnia (β=0.007). [GWAS Catalog] References: PMID:35835914; GWAS Catalog; GCST90131901 ## rs9892728 (RAMP2-AS1, RAMP2) Source: https://orviva.ai/learn/snps/rs9892728 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.013). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.054). [GWAS Catalog] References: PMID:32541925; GWAS Catalog; GCST010553 ## rs9894577 (ACBD4 - HEXIM1) Source: https://orviva.ai/learn/snps/rs9894577 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Hand grip strength (baseline) (β=0.011). [GWAS Catalog] - **AA** (typical): A allele associated with marginally increased risk of Osteoarthritis (OR=1.02). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566795 ## rs9895661 (BCAS3, TBX2-AS1) Source: https://orviva.ai/learn/snps/rs9895661 (imported from public databases, not individually reviewed; category: Nutrition; effect allele T) - **CC** (typical): C allele associated with increased Uric acid levels (β=0.056). [GWAS Catalog] - **TT** (typical): T allele associated with increased Calcium levels (β=0.026). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018951 ## rs9905274 (BCAS3, TBX2-AS1) Source: https://orviva.ai/learn/snps/rs9905274 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.013). [GWAS Catalog] - **CC** (typical): C allele associated with increased HDL cholesterol levels (UKB data field 30760) (β=0.026). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468075 ## rs9906944 (IGF2BP1) Source: https://orviva.ai/learn/snps/rs9906944 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Diabetes / "Sugar" (β=0.055). [GWAS Catalog] - **TT** (increased): T allele associated with increased Body mass index (β=0.018). [GWAS Catalog] References: PMID:30239722; GWAS Catalog; GCST009003 ## rs9907657 (TNFSF12-TNFSF13, TNFSF12) Source: https://orviva.ai/learn/snps/rs9907657 (imported from public databases, not individually reviewed; category: Health risk; effect allele G) - **GG** (typical): G allele associated with increased Atrial fibrillation and flutter (PheCode 427.2) (β=0.066). [GWAS Catalog] - **TT** (increased): T allele associated with increased Waist circumference adjusted for body mass index (β=0.026). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475967 ## rs9908159 (NOG - C17orf67) Source: https://orviva.ai/learn/snps/rs9908159 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Standing height (UKB data field 50) (β=0.018). [GWAS Catalog] - **TT** (typical): T allele associated with marginally increased risk of Osteoarthritis of the hip or knee (OR=1.04). [GWAS Catalog] References: PMID:39789286; GWAS Catalog; GCST90468178 ## rs9919429 (REEP3) Source: https://orviva.ai/learn/snps/rs9919429 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **AA** (typical): A allele associated with increased Triglycerides to total lipids ratio in small VLDL (β=0.049). [GWAS Catalog] - **GG** (increased): G allele associated with increased Body mass index (β=0.013). [GWAS Catalog] References: PMID:34594039; GWAS Catalog; GCST90018947 ## rs9921416 (FTO - LINC02169) Source: https://orviva.ai/learn/snps/rs9921416 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **CC** (increased): C allele associated with increased Body mass index (β=0.010). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Knee osteoarthritis (OR=0.98). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566800 ## rs9922607 (XYLT1 - RPL7P47) Source: https://orviva.ai/learn/snps/rs9922607 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **CC** (typical): C allele associated with increased Externalizing behaviour (multivariate analysis) (β=0.012). [GWAS Catalog] - **TT** (increased): T allele associated with increased Smoking initiation (ever regular vs never regular) (MTAG) (β=0.011). [GWAS Catalog] References: PMID:30643251; GWAS Catalog; GCST007468 ## rs9923231 (VKORC1) Source: https://orviva.ai/learn/snps/rs9923231 (curated, human-reviewed; category: Drug response; effect allele T) - **TT** (increased): VKORC1 low-dose warfarin genotype. Significantly lower warfarin dose required. - **CT / TC** (increased): VKORC1 intermediate warfarin sensitivity. Moderate dose adjustment may be needed. - **CC** (typical): VKORC1 standard warfarin sensitivity. References: CPIC; PMID:25099164; PharmGKB ## rs9925964 (KAT8) Source: https://orviva.ai/learn/snps/rs9925964 (imported from public databases, not individually reviewed; category: Trait; effect allele A) - **GG** (reduced): G allele associated with decreased risk of Stable warfarin dose (OR=0.45). [GWAS Catalog] - **AA** (increased): A allele associated with increased Body mass index (β=0.019). [GWAS Catalog] References: PMID:30108127; GWAS Catalog; GCST006368 ## rs9926289 (FTO) Source: https://orviva.ai/learn/snps/rs9926289 (imported from public databases, not individually reviewed; category: Nutrition; effect allele A) - **AA** (high): A allele associated with substantially increased risk of Alcohol use disorder (OR=7.17). [GWAS Catalog] - **GG** (typical): G allele associated with increased Metabolic syndrome (β=0.087). [GWAS Catalog] References: PMID:32451486; GWAS Catalog; GCST010545 ## rs9927137 (ZNF689) Source: https://orviva.ai/learn/snps/rs9927137 (imported from public databases, not individually reviewed; category: Trait; effect allele G) - **GG** (increased): G allele associated with increased Body mass index (β=0.020). [GWAS Catalog] - **AA** (typical): A allele associated with increased Heel bone mineral density (β=0.012). [GWAS Catalog] References: PMID:38538606; GWAS Catalog; GCST90428119 ## rs9927842 (PDXDC1) Source: https://orviva.ai/learn/snps/rs9927842 (imported from public databases, not individually reviewed; category: Trait; effect allele T) - **TT** (increased): T allele associated with increased Height (β=0.016). [GWAS Catalog] - **CC** (typical): C allele associated with increased Type 2 diabetes (β=0.031). [GWAS Catalog] References: PMID:36224396; GWAS Catalog; GCST90245848 ## rs9930333 (FTO) Source: https://orviva.ai/learn/snps/rs9930333 (imported from public databases, not individually reviewed; category: Health risk; effect allele T) - **GG** (increased): G allele associated with increased Body mass index (β=0.084). [GWAS Catalog] - **TT** (typical / lower): T allele associated with slightly decreased risk of Knee osteoarthritis (OR=0.95). [GWAS Catalog] References: PMID:40205036; GWAS Catalog; GCST90566800 ## rs9934438 (VKORC1) Source: https://orviva.ai/learn/snps/rs9934438 (imported from public databases, not individually reviewed; category: Drug response) - **AA** (typical): Genotype AA is associated with decreased dose of acenocoumarol in children as compared to genotypes AG + GG. - **A** (typical): Allele A is associated with decreased dose of warfarin. - **GG** (typical): Genotype GG is associated with increased dose of warfarin in people with heart valve replacement as compared to genotypes AA + AG. - **AG** (typical): Genotype AG is associated with increased dose of warfarin in people with Atrial Fibrillation, Cardiomyopathies, heart valve replacement, Peripheral Vascular Diseases, Pulmonary Embolism and Venous Thr References: PharmGKB ## rs993471 (COL11A1) Source: https://orviva.ai/learn/snps/rs993471 (imported from public databases, not individually reviewed; category: Health risk; effect allele A) - **GG** (increased): G allele associated with increased Hip circumference adjusted for BMI (β=0.019). [GWAS Catalog] - **AA** (typical): A allele associated with increased Primary open angle glaucoma (MTAG) (β=0.058). [GWAS Catalog] References: PMID:37386247; GWAS Catalog; GCST90310210 ## rs9939609 (FTO) Source: https://orviva.ai/learn/snps/rs9939609 (curated, human-reviewed; category: Health risk; effect allele A) - **AA** (elevated): FTO risk variant homozygous. Associated with increased BMI and obesity risk (1.67x odds). - **AT / TA** (slightly elevated): One copy of FTO risk variant. Moderately increased obesity risk. - **TT** (typical / lower): Typical obesity risk at FTO locus. References: PMID:17434869; GWAS Catalog ## rs9945126 (SMAD7) Source: https://orviva.ai/learn/snps/rs9945126 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **GG** (typical): G allele associated with increased Estimated glomerular filtration rate (creatinine, cystatin c) (β=0.018). [GWAS Catalog] - **CC** (increased): C allele associated with increased Sex hormone-binding globulin levels adjusted for BMI (β=0.004). [GWAS Catalog] References: PMID:32042192; GWAS Catalog; GCST90012110 ## rs9956279 (RNU4-17P - MC4R) Source: https://orviva.ai/learn/snps/rs9956279 (imported from public databases, not individually reviewed; category: Trait; effect allele C) - **CC** (increased): C allele associated with increased Body mass index (β=0.034). [GWAS Catalog] - **TT** (typical): T allele associated with increased Triglycerides to total lipids ratio in medium HDL (β=0.028). [GWAS Catalog] References: PMID:36581621; GWAS Catalog; GCST90255621 ## rs998584 (VEGFA - LINC02537) Source: https://orviva.ai/learn/snps/rs998584 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **AA** (increased): A allele associated with increased Waist-to-hip ratio adjusted for BMI (β=0.050). [GWAS Catalog] - **CC** (typical): C allele associated with increased high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) (β=0.076). [GWAS Catalog] References: PMID:39024449; GWAS Catalog; GCST90475352 ## rs9987289 (PPP1R3B-DT) Source: https://orviva.ai/learn/snps/rs9987289 (imported from public databases, not individually reviewed; category: Nutrition; effect allele G) - **AA** (typical / lower): A allele associated with decreased risk of high density lipoprotein cholesterol (HDLC, maximum, inv-norm transformed) (OR=0.20). [GWAS Catalog] - **GG** (typical): G allele associated with increased Polyunsaturated fatty acid levels (β=0.060). [GWAS Catalog] References: PMID:41044249; GWAS Catalog; GCST90501229 ## rs999737 (RAD51B) Source: https://orviva.ai/learn/snps/rs999737 (imported from public databases, not individually reviewed; category: Health risk; effect allele C) - **TT** (increased): T allele associated with increased Height (β=0.011). [GWAS Catalog] - **CC** (typical): C allele associated with marginally increased risk of Breast cancer (OR=1.10). [GWAS Catalog] References: PMID:29059683; GWAS Catalog; GCST004988 # Epigenetics > Epigenetic clocks, age acceleration, methylation risk scores and immune-cell composition: what each measures and what moves it. Index: https://orviva.ai/learn/epigenetics (English) · https://orviva.ai/zh/learn/epigenetics (中文). Each entry below links to its page. ## Horvath DNAm Age > Horvath's pan-tissue epigenetic clock — a weighted sum of β values at 353 CpG sites, passed through a piecewise log/linear transform, estimates chronological age across almost any human tissue. Source: https://orviva.ai/learn/epigenetics/horvath_dnam_age (curated; 中文: https://orviva.ai/zh/learn/epigenetics/horvath_dnam_age) ### What does a high or low value mean? A clock outputs a methylation age in years. On its own it is neither high nor low; what carries information is the gap to chronological age (see the matching age-acceleration indicator) and how the value moves between repeated samples. ### References - Horvath 2013 — DNA methylation age of human tissues and cell types (Genome Biology) — https://doi.org/10.1186/gb-2013-14-10-r115 - Horvath & Raj 2018 — DNA methylation-based biomarkers and the epigenetic clock theory of ageing (Nat Rev Genet) — https://doi.org/10.1038/s41576-018-0004-3 ## Hannum DNAm Age > Hannum 2013 whole-blood epigenetic clock — 71 CpGs trained to predict chronological age in a blood-specific context. More reactive to immune shifts than Horvath. Source: https://orviva.ai/learn/epigenetics/hannum_dnam_age (curated; 中文: https://orviva.ai/zh/learn/epigenetics/hannum_dnam_age) ### What does a high or low value mean? A clock outputs a methylation age in years. On its own it is neither high nor low; what carries information is the gap to chronological age (see the matching age-acceleration indicator) and how the value moves between repeated samples. ### References - Hannum et al. 2013 — Genome-wide methylation profiles reveal quantitative views of human aging rates (Mol Cell) — https://doi.org/10.1016/j.molcel.2012.10.016 ## PhenoAge > Levine PhenoAge — 513 CpG clock trained against a composite of 9 aging biomarkers (e.g. albumin, CRP, WBC), giving a biological age calibrated to mortality and healthspan outcomes. Source: https://orviva.ai/learn/epigenetics/phenoage (curated; 中文: https://orviva.ai/zh/learn/epigenetics/phenoage) ### What does a high or low value mean? A clock outputs a methylation age in years. On its own it is neither high nor low; what carries information is the gap to chronological age (see the matching age-acceleration indicator) and how the value moves between repeated samples. ### References - Levine et al. 2018 — An epigenetic biomarker of aging for lifespan and healthspan (Aging) — https://doi.org/10.18632/aging.101414 ## DunedinPACE > DunedinPACE — 173 CpG single-sample estimator of the *pace* of biological aging (years of biological aging per chronological year). 1.0 = normal pace; > 1.05 is accelerated. Source: https://orviva.ai/learn/epigenetics/dunedinpace (curated; 中文: https://orviva.ai/zh/learn/epigenetics/dunedinpace) ### What does a high or low value mean? DunedinPACE is a pace, not an age: 1.0 means the body is ageing one biological year per calendar year, 1.2 means 20% faster, 0.9 means 10% slower. It responds to lifestyle change faster than the absolute-age clocks, which is why it is the usual outcome measure in intervention trials. ### Interventions with published effects - Caloric Restriction (CALERIE-2): -0.03 over 24 months (high evidence; Waziry et al. 2023 Nature Aging — CALERIE-2 RCT) - Rapamycin: -0.02 over 12 months (preliminary evidence; Preliminary PEARL trial reports 2023) - NMN supplementation: -0.01 over 3 months (low evidence; Yoshino 2021 Science + subsequent small RCTs) - NR supplementation: -0.01 over 3 months (low evidence; Martens et al. 2018 Nat Commun) - Aerobic exercise (~150 min / week): -0.04 over 6 months (moderate evidence; Fitzgerald et al. 2021 Aging) - Resistance training: -0.02 over 6 months (moderate evidence; Fitzgerald et al. 2021 + meta-analyses) ### References - Belsky et al. 2022 — DunedinPACE: DNA methylation biomarker of the pace of aging (eLife) — https://doi.org/10.7554/eLife.73420 ## Horvath Age Acceleration > Horvath age acceleration is the difference between Horvath DNAm age and chronological age, in years. A positive value means the methylation pattern looks older than the calendar says; a negative value, younger. Values within about ±3 years are within the clock's own noise. Source: https://orviva.ai/learn/epigenetics/age_accel_horvath (curated; 中文: https://orviva.ai/zh/learn/epigenetics/age_accel_horvath) ### What does a high or low value mean? A positive value means the methylation pattern reads older than chronological age; negative, younger. Values between -3 and 3 years are within the clock's noise and should not be over-read. Sustained positive acceleration beyond the noise band is associated with higher disease and mortality risk at the population level. ### Interventions with published effects - Metformin: -0.8 over 12 months (moderate evidence; Mohammed et al. 2021 Aging) ### References - Horvath 2013 — DNA methylation age of human tissues and cell types (Genome Biology) — https://doi.org/10.1186/gb-2013-14-10-r115 ## PhenoAge Age Acceleration > PhenoAge acceleration is PhenoAge minus chronological age, in years. Because PhenoAge was trained on clinical markers of mortality rather than on age itself, its acceleration tracks physiological wear — inflammation, glucose control, kidney and liver function — more closely than the first-generation clocks, and it responds to lifestyle change within months. Source: https://orviva.ai/learn/epigenetics/age_accel_phenoage (curated; 中文: https://orviva.ai/zh/learn/epigenetics/age_accel_phenoage) ### What does a high or low value mean? A positive value means the methylation pattern reads older than chronological age; negative, younger. Values between -3 and 3 years are within the clock's noise and should not be over-read. Sustained positive acceleration beyond the noise band is associated with higher disease and mortality risk at the population level. ### Interventions with published effects - Caloric Restriction (CALERIE-2): -0.25 over 24 months (high evidence; Waziry et al. 2023 Nature Aging — CALERIE-2 RCT) - Aerobic exercise (~150 min / week): -0.5 over 6 months (moderate evidence; Fitzgerald et al. 2021 Aging) - Mediterranean diet: -0.8 over 18 months (moderate evidence; Yaskolka-Meir et al. 2021 DIRECT-PLUS trial) ### References - Levine et al. 2018 — An epigenetic biomarker of aging for lifespan and healthspan (Aging) — https://doi.org/10.18632/aging.101414 ## Smoking Exposure MRS > AHRR (aryl hydrocarbon receptor repressor) methylation score. cg05575921 is the single strongest methylation biomarker of tobacco exposure in blood. Scale: < 1 never-smoker, 1–3 former, 3–6 current, > 6 heavy. Source: https://orviva.ai/learn/epigenetics/methyl_smoking_mrs (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_smoking_mrs) ### What does a high or low value mean? This is a z-like index centred near 0 (score), not a blood concentration. It reflects the methylation footprint of long-term average exposure or protein level, and complements rather than replaces a single blood test. ### References - Philibert et al. 2020 — A quantitative epigenetic approach for the assessment of cigarette consumption (Front Psychiatry) — https://doi.org/10.3389/fpsyt.2020.00167 - Joehanes et al. 2016 — Epigenetic signatures of cigarette smoking (Circ Cardiovasc Genet) — https://doi.org/10.1161/CIRCGENETICS.116.001506 ## Epi-CRP EpiScore > Epi-CRP EpiScore — 100 CpG methylation-based predictor of chronic systemic inflammation (Gadd 2022 eLife, KORA-trained). Output is a z-like index centered near 0 in healthy adults, not calibrated to mg/L. Proxy for long-term average inflammation; cross-reference with plasma hs-CRP when available. Source: https://orviva.ai/learn/epigenetics/methyl_crp_mrs (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_crp_mrs) ### What does a high or low value mean? This is a z-like index centred near 0 (score), not a blood concentration. -0.3 to 0.3 is the typical band. It reflects the methylation footprint of long-term average exposure or protein level, and complements rather than replaces a single blood test. ### References - Gadd et al. 2022 — Epigenetic scores for the circulating proteome as tools for disease prediction (eLife) — https://doi.org/10.7554/eLife.71802 - Stevenson et al. 2020 — Trajectories of inflammatory biomarkers over the eighth decade (Clin Epigenet) — https://doi.org/10.1186/s13148-020-00864-y ## Adiponectin EpiScore > Methylation-predicted adiponectin — adipokine inversely associated with insulin resistance, cardiovascular disease, and inflammation. Source: https://orviva.ai/learn/epigenetics/methyl_adiponectin_episcore (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_adiponectin_episcore) ### What does a high or low value mean? This is a z-like index centred near 0 (score), not a blood concentration. -0.5 to 0.5 is the typical band. It reflects the methylation footprint of long-term average exposure or protein level, and complements rather than replaces a single blood test. ### References - Gadd et al. 2022 — Epigenetic scores for the circulating proteome as tools for disease prediction (eLife) — https://doi.org/10.7554/eLife.71802 - Gadd EpiScores weights (KORA training cohort, MIT) — https://github.com/DanniGadd/EpiScores-for-protein-levels ## SHBG EpiScore > Methylation-predicted SHBG (sex hormone–binding globulin). Low SHBG tracks insulin resistance and metabolic syndrome. Source: https://orviva.ai/learn/epigenetics/methyl_shbg_episcore (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_shbg_episcore) ### What does a high or low value mean? This is a z-like index centred near 0 (score), not a blood concentration. -0.5 to 0.5 is the typical band. It reflects the methylation footprint of long-term average exposure or protein level, and complements rather than replaces a single blood test. ### References - Gadd et al. 2022 — Epigenetic scores for the circulating proteome as tools for disease prediction (eLife) — https://doi.org/10.7554/eLife.71802 - Gadd EpiScores weights (KORA training cohort, MIT) — https://github.com/DanniGadd/EpiScores-for-protein-levels ## Myeloperoxidase EpiScore > Methylation-predicted myeloperoxidase. Neutrophil enzyme, marker of oxidative stress and atherosclerotic cardiovascular risk. Source: https://orviva.ai/learn/epigenetics/methyl_mpo_episcore (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_mpo_episcore) ### What does a high or low value mean? This is a z-like index centred near 0 (score), not a blood concentration. -0.5 to 0.5 is the typical band. It reflects the methylation footprint of long-term average exposure or protein level, and complements rather than replaces a single blood test. ### References - Gadd et al. 2022 — Epigenetic scores for the circulating proteome as tools for disease prediction (eLife) — https://doi.org/10.7554/eLife.71802 - Gadd EpiScores weights (KORA training cohort, MIT) — https://github.com/DanniGadd/EpiScores-for-protein-levels ## MMP-9 EpiScore > Methylation-predicted MMP-9 — matrix metalloproteinase-9, involved in tissue remodeling and vascular aging. Source: https://orviva.ai/learn/epigenetics/methyl_mmp9_episcore (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_mmp9_episcore) ### What does a high or low value mean? This is a z-like index centred near 0 (score), not a blood concentration. -0.5 to 0.5 is the typical band. It reflects the methylation footprint of long-term average exposure or protein level, and complements rather than replaces a single blood test. ### References - Gadd et al. 2022 — Epigenetic scores for the circulating proteome as tools for disease prediction (eLife) — https://doi.org/10.7554/eLife.71802 - Gadd EpiScores weights (KORA training cohort, MIT) — https://github.com/DanniGadd/EpiScores-for-protein-levels ## TNF sR-II EpiScore > Methylation-predicted TNF sR-II — soluble TNF receptor II, stable marker of chronic TNF signaling and inflammaging. Source: https://orviva.ai/learn/epigenetics/methyl_tnfrii_episcore (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_tnfrii_episcore) ### What does a high or low value mean? This is a z-like index centred near 0 (score), not a blood concentration. -0.5 to 0.5 is the typical band. It reflects the methylation footprint of long-term average exposure or protein level, and complements rather than replaces a single blood test. ### References - Gadd et al. 2022 — Epigenetic scores for the circulating proteome as tools for disease prediction (eLife) — https://doi.org/10.7554/eLife.71802 - Gadd EpiScores weights (KORA training cohort, MIT) — https://github.com/DanniGadd/EpiScores-for-protein-levels ## Resistin EpiScore > Methylation-predicted resistin — adipokine linked to insulin resistance and metabolic syndrome. Source: https://orviva.ai/learn/epigenetics/methyl_resistin_episcore (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_resistin_episcore) ### What does a high or low value mean? This is a z-like index centred near 0 (score), not a blood concentration. -0.5 to 0.5 is the typical band. It reflects the methylation footprint of long-term average exposure or protein level, and complements rather than replaces a single blood test. ### References - Gadd et al. 2022 — Epigenetic scores for the circulating proteome as tools for disease prediction (eLife) — https://doi.org/10.7554/eLife.71802 - Gadd EpiScores weights (KORA training cohort, MIT) — https://github.com/DanniGadd/EpiScores-for-protein-levels ## VCAM-1 EpiScore > Methylation-predicted VCAM-1 — endothelial adhesion molecule, marker of vascular inflammation. Source: https://orviva.ai/learn/epigenetics/methyl_vcam1_episcore (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_vcam1_episcore) ### What does a high or low value mean? This is a z-like index centred near 0 (score), not a blood concentration. -0.5 to 0.5 is the typical band. It reflects the methylation footprint of long-term average exposure or protein level, and complements rather than replaces a single blood test. ### References - Gadd et al. 2022 — Epigenetic scores for the circulating proteome as tools for disease prediction (eLife) — https://doi.org/10.7554/eLife.71802 - Gadd EpiScores weights (KORA training cohort, MIT) — https://github.com/DanniGadd/EpiScores-for-protein-levels ## β2-Microglobulin EpiScore > Methylation-predicted β2-microglobulin. Tracks kidney function decline and chronic immune activation. Source: https://orviva.ai/learn/epigenetics/methyl_b2m_episcore (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_b2m_episcore) ### What does a high or low value mean? This is a z-like index centred near 0 (score), not a blood concentration. -0.5 to 0.5 is the typical band. It reflects the methylation footprint of long-term average exposure or protein level, and complements rather than replaces a single blood test. ### References - Gadd et al. 2022 — Epigenetic scores for the circulating proteome as tools for disease prediction (eLife) — https://doi.org/10.7554/eLife.71802 - Gadd EpiScores weights (KORA training cohort, MIT) — https://github.com/DanniGadd/EpiScores-for-protein-levels ## CD4+ T cells > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_cd4t (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_cd4t) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## CD8+ T cells > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_cd8t (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_cd8t) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## Natural Killer cells > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_nk (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_nk) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## B cells > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_bcell (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_bcell) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## Monocytes > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_mono (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_mono) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## Granulocytes > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_gran (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_gran) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## CD4+ T cells — naive > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_cd4t_naive (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_cd4t_naive) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## CD4+ T cells — memory > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_cd4t_mem (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_cd4t_mem) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## CD8+ T cells — naive > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_cd8t_naive (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_cd8t_naive) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## CD8+ T cells — memory > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_cd8t_mem (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_cd8t_mem) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## T regulatory cells > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_treg (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_treg) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## B cells — naive > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_bcell_naive (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_bcell_naive) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## B cells — memory > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_bcell_mem (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_bcell_mem) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## Neutrophils > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_neut (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_neut) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## Eosinophils > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_eos (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_eos) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7 ## Basophils > Reference-based blood cell deconvolution from the EpiDISH R package (Bioconductor, GPL-2), built on FACS-sorted leukocyte data from Salas et al. 2022. 12 cell types resolved; MSA samples use a 574-CpG subset of the published 600-CpG panel. Source: https://orviva.ai/learn/epigenetics/methyl_baso (curated; 中文: https://orviva.ai/zh/learn/epigenetics/methyl_baso) ### What does a high or low value mean? This is a blood cell proportion inferred from methylation (deconvolution). It correlates with, but is not identical to, a CBC differential; it is used to adjust the other methylation measures and as a coarse read on immune status. ### References - Zheng & Teschendorff — EpiDISH (Bioconductor) — https://bioconductor.org/packages/EpiDISH/ - Luo et al. 2026 — Guidelines on optimizing DNA methylation reference panels for cell-type deconvolution (Comm Biol) — https://www.nature.com/articles/s42003-026-09745-1 - Salas et al. 2022 — Enhanced cell deconvolution of peripheral blood using DNA methylation (Nat Commun) — https://www.nature.com/articles/s41467-021-27864-7