rs2231137

A SNP in the ABCG2 gene on chromosome 4. Its most notable genotype is T;T: Slightly lower stroke risk

Gene
ABCG2
Location
Chr 488,139,962 (GRCh38)
Highest magnitude
1.5Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
14%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableGoodSlightly lower stroke riskMinor · 1.51% of people
  2. C;TGoodSlightly lower stroke riskMinor · 1.525% of people
  3. C;CBadMost common genotype, with slightly higher stroke riskMinor · 1.574% of people

SNPedia records rs2231137 on the minus strand: (A;A), (A;G), (G;G). 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.

  • AverageT;T 1% C;T 25% C;C 74%
  • European ancestry (Utah)T;T 0% C;T 3% C;C 97%
  • Han Chinese (Beijing)T;T 0% C;T 58% C;C 42%
  • Japanese (Tokyo)T;T 5% C;T 30% C;C 66%
  • Yoruba (Nigeria)T;T 0% C;T 10% C;C 91%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 150 words

rs2231137, also known as Val12Met, is a SNP in the ATP-binding cassette, sub-family G (WHITE), member 2 ABCG2 gene. The (G) allele encodes the Val. In a study of incident ischemic stroke during 14 years of follow-up in a population-based study of older adults known as the Cardiovascular Health Study (CHS), rs2231137 was associated with stroke in both white (hazard ratio, 1.46, CI: 1.05 - 2.03) and black (hazard ratio, 3.59, CI, 1.11 - 11.6) participants. The risk of ischemic stroke was higher in Val allele homozygotes than in Met allele carriers. The adjusted hazard ratio for Val allele homozygotes, compared with Met allele carriers, was 1.50 (90% CI, 1.06 to 2.12) in whites and 3.62 (90% CI, 1.11 to 11.9) in black participants (Table 4). Because nearly 90% of whites and blacks are Val homozygotes, the Met allele could also be considered as a protective allele.

Source and license

Adapted from rs2231137 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.