rs7501331
A SNP in the BCO1 gene on chromosome 16. Its most notable genotype is C;T: Reduced conversion of beta-carotene to retinol
- Gene
- BCO1
- Location
- Chr 1681,280,891 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 16%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodnormal
- C;TMost notableBadReduced conversion of beta-carotene to retinol
- T;TBadReduced conversion of beta-carotene to retinol
On SNPedia: (C;C), (C;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 10 HapMap populations.
- AverageC;C 75% C;T 23% T;T 2%
- European ancestry (Utah)C;C 46% C;T 50% T;T 5%
- Han Chinese (Beijing)C;C 68% C;T 31% T;T <1%
- Japanese (Tokyo)C;C 72% C;T 27% T;T <1%
- Yoruba (Nigeria)C;C 100% C;T 0% T;T 0%
- African ancestry (Southwest US)C;C 90% C;T 11% T;T 0%
- Chinese (Denver)C;C 72% C;T 27% T;T <1%
- Gujarati IndianC;C 59% C;T 33% T;T 8%
- Mexican ancestry (Los Angeles)C;C 75% C;T 21% T;T 4%
- Maasai (Kenya)C;C 97% C;T 3% T;T 0%
- TuscanC;C 73% C;T 24% T;T 4%
Related
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
C;T
Reduced BCMO1 activity results in 32% lower ability to convert Beta-carotene to retinyl esters and higher serum beta-carotene levels. See also rs12934922.
T;T
Reduced BCMO1 activity results in 32% lower ability to convert Beta-carotene to retinyl esters and higher serum beta-carotene levels. See also rs12934922.
Source and license
Adapted from rs7501331 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.