rs12934922

A SNP in the BCO1 gene on chromosome 16. Its most notable genotype is A;T: Reduced conversion of beta-carotene to retinol

Gene
BCO1
Location
Chr 1681,268,089 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe
Minor allele frequency
27%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ANot ratednormalTypical · 0.063% of people
  2. A;TMost notableBadReduced conversion of beta-carotene to retinolMinor · 1.031% of people
  3. T;TNot ratedReduced conversion of beta-carotene to retinolMinor · 1.06% of people

On SNPedia: (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 4 HapMap populations.

  • AverageA;A 63% A;T 31% T;T 6%
  • European ancestry (Utah)A;A 32% A;T 49% T;T 19%
  • Han Chinese (Beijing)A;A 68% A;T 30% T;T 2%
  • Japanese (Tokyo)A;A 72% A;T 28% T;T 0%
  • Yoruba (Nigeria)A;A 80% A;T 18% T;T 2%

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Show notes, about 180 words

rs12934922 (R267S) and rs7501331 (A379V) double mutant have a reduced catalytic activity of beta-carotene by 57%. Female volunteers carrying the T variant of rs7501331 (379V) had a 32% lower ability to convert Beta-carotene, and those carrying at least one T in both SNPs show a 69% lower ability to convert Beta-carotene into retinyl esters. rs7501331: the frequency of the wild-type C allele and variant T allele was 76 and 24%, respectively; 56% of the population was CC wild-type genotype, and 39% was heterozygote CT with the TT variant present in 5% of the population. rs12934922: the frequency of the wild-type A allele and variant T allele was 58 and 42%, respectively; 38% of the population was AA wild-type genotype, 40% was heterozygote AT, and 22% was TT homozygote

A;T

Associated with Rs7501331 and reduced BCMO1, lower ability to convert beta-carotene to retinyl esters and higher serum beta-carotene levels. See also Rs7501331

T;T

Associated with Rs7501331 and reduced BCMO1, lower ability to convert beta-carotene to retinyl esters and higher serum beta-carotene levels. See also Rs7501331

Source and license

Adapted from rs12934922 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.