rs4240678 OR7E161P - DEFB136
C allele associated with decreased risk of Left ventricular end systolic volume (indexed to body surface area) (OR=0.32). [GWAS Catalog]
What is rs4240678?
rs4240678 is a single-nucleotide polymorphism (SNP) in the OR7E161P - DEFB136 gene. Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as CC. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.
What does each rs4240678 genotype mean?
| Genotype | Association | What the evidence says | Confidence |
|---|---|---|---|
| CC | typical / lower | C allele associated with decreased risk of Left ventricular end systolic volume (indexed to body surface area) (OR=0.32). [GWAS Catalog] | 70% |
Is rs4240678 on 23andMe and AncestryDNA chips?
Chip coverage is not recorded for this variant. Orviva reports it when a raw-data file contains it directly or via a well-correlated proxy SNP, and says so when it does not.
Sources
- PubMed 39966646
- GWAS Catalog
- GCST90435259
Upload your 23andMe, AncestryDNA or WeGene raw file → · Ask G2: “What is my genotype at rs4240678 and what does it mean for me?”
Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.