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rs1801394 MTRR

MTRR A66G homozygous. Reduced methionine synthase reductase activity; may increase homocysteine and affect B12 utilization.

Curated · human-reviewed Nutrition · Risk / effect allele: G · dbSNP

What is rs1801394?

rs1801394 is a single-nucleotide polymorphism (SNP) in the MTRR gene (Methionine synthase reductase). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as GG. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs1801394 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
GGincreasedMTRR A66G homozygous. Reduced methionine synthase reductase activity; may increase homocysteine and affect B12 utilization.78%
AG / GAtypicalMTRR A66G heterozygous. Mildly reduced enzyme activity.75%
AAtypicalNormal MTRR function.78%

How common is the G allele of rs1801394?

Minor-allele frequency by population (gnomAD / 1000 Genomes):

European45.0%
East Asian25.0%
African30.0%
South Asian40.0%
Admixed American40.0%
Global37.0%

Which drugs have annotations for rs1801394?

PharmGKB clinical annotations (level 1A is the strongest evidence, 4 the weakest):

DrugAnnotation typeEvidence level
folic acidEfficacy, Toxicity, Other, Metabolism/PK3
vitamin b-complexEfficacy, Toxicity, Other, Metabolism/PK3
plainEfficacy, Toxicity3

Is rs1801394 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.

Sources

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.