rs2287218

A SNP in the MVK gene on chromosome 12. Its most notable genotype is T;T: Slightly higher risk for CHD and IS

Gene
MVK
Location
Chr 12109,581,533 (GRCh38)
Highest magnitude
2.6Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadSlightly higher risk for CHD and ISWorth knowing · 2.62% of people
  2. C;TBadSlightly higher risk for CHD and ISMinor · 1.626% of people
  3. C;CGoodcommon/normalTypical · 0.072% of people

SNPedia records rs2287218 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 11 HapMap populations.

  • AverageT;T 2% C;T 26% C;C 72%
  • European ancestry (Utah)T;T 5% C;T 29% C;C 66%
  • Han Chinese (Beijing)T;T <1% C;T 22% C;C 77%
  • Japanese (Tokyo)T;T 0% C;T 28% C;C 72%
  • Yoruba (Nigeria)T;T 2% C;T 37% C;C 61%
  • African ancestry (Southwest US)T;T 0% C;T 35% C;C 65%
  • Chinese (Denver)T;T <1% C;T 27% C;C 73%
  • Gujarati IndianT;T 0% C;T 15% C;C 85%
  • Luhya (Kenya)T;T 2% C;T 19% C;C 79%
  • Mexican ancestry (Los Angeles)T;T 4% C;T 30% C;C 67%
  • Maasai (Kenya)T;T <1% C;T 16% C;C 83%
  • TuscanT;T 2% C;T 33% C;C 65%

Notes

From SNPedia

Notes

Based on a study of 1764 unrelated Southern Han Chinese subjects (CHD, 583; IS, 555; and healthy controls, 626), rs2287218(A) allele carriers had an increased risk of coronary heart disease and ischemic stroke (CHD: OR = 1.674, CI: 1.25-2.25, p = 0.001 for AG/AA vs. GG genotypes; IS: OR = 1.890, CI: 1.36-2.47, p = 0.001 for AG/AA vs. GG genotypes). The authors hypothesize that rs2287218 is likely to increase the risk of CHD and IS by decreasing serum HDL-C levels.

T;T

see main rs-page text for details

C;T

see main rs-page text for details

Source and license

Adapted from rs2287218 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.