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rs12325817 PEMT

PEMT variant homozygous. Increased dietary choline requirement; risk of choline deficiency on low-choline diets.

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

What is rs12325817?

rs12325817 is a single-nucleotide polymorphism (SNP) in the PEMT gene (Phosphatidylethanolamine N-methyltransferase). 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 rs12325817 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
CCincreasedPEMT variant homozygous. Increased dietary choline requirement; risk of choline deficiency on low-choline diets.78%
GC / CGtypicalModerately increased choline needs.75%
GGtypicalNormal choline metabolism.78%

How common is the C allele of rs12325817?

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

European26.0%
East Asian35.0%
African20.0%
South Asian28.0%
Admixed American25.0%
Global27.0%

Is rs12325817 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V4, 23andMe V5, 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.