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Learn · Variants · BCMO1

rs12934922 BCMO1

BCMO1 R267S homozygous. Reduced beta-carotene conversion; combined with rs7501331 can cause ~57% reduction.

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

What is rs12934922?

rs12934922 is a single-nucleotide polymorphism (SNP) in the BCMO1 gene (Beta-carotene oxygenase 1 (BCO1)). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as TT. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs12934922 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
TTincreasedBCMO1 R267S homozygous. Reduced beta-carotene conversion; combined with rs7501331 can cause ~57% reduction.80%
AT / TAtypicalModerately reduced beta-carotene conversion.77%
AAtypicalNormal BCMO1 function at this position.80%

How common is the T allele of rs12934922?

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

European42.0%
East Asian38.0%
African35.0%
South Asian40.0%
Admixed American40.0%
Global39.0%

Is rs12934922 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.