rs2243093

A SNP in the GP1BA gene on chromosome 17. Its most notable genotype is C;C.

Gene
GP1BA
Location
Chr 174,932,600 (GRCh38)
Highest magnitude
3.4Important
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
18%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableBadNo summary available.Important · 3.43% of people
  2. C;TNot ratedNo summary available.Typical · 0.031% of people
  3. T;TGoodcommon in clinvarTypical · 0.066% of people

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 11 HapMap populations.

  • AverageC;C 3% C;T 31% T;T 66%
  • European ancestry (Utah)C;C <1% C;T 21% T;T 78%
  • Han Chinese (Beijing)C;C 5% C;T 36% T;T 59%
  • Japanese (Tokyo)C;C 5% C;T 39% T;T 56%
  • Yoruba (Nigeria)C;C 4% C;T 41% T;T 55%
  • African ancestry (Southwest US)C;C 5% C;T 33% T;T 61%
  • Chinese (Denver)C;C 6% C;T 38% T;T 57%
  • Gujarati IndianC;C 0% C;T 26% T;T 74%
  • Luhya (Kenya)C;C <1% C;T 26% T;T 73%
  • Mexican ancestry (Los Angeles)C;C 3% C;T 29% T;T 67%
  • Maasai (Kenya)C;C 4% C;T 34% T;T 62%
  • TuscanC;C 1% C;T 15% T;T 84%

Other GP1BA SNPs

All GP1BA SNPs

Notes

From SNPedia

Show notes, about 360 words

Resides within the platelet glycoprotein (1b&#945;) gene. The rs2243093 variant (C;C) was found to increase the odds of coronary heart disease in a clinical Chinese Han population. The (C;C) genotype is also associated with a risk of ischemic stroke. Rs2243093 is also classified in the literature as the -5T/C, Kozak sequence polymorphism. A case-control study of 246 Chinese Han patients (with preexisting coronary heart disease) reported that in comparison to the "(T;T)" genotype, the "(C;C)" genotype is associated with an increased risk for coronary heart disease with an odds ratio of 3.41 (CI: 1.19-9.75, p<0.029). A meta-analysis was performed in order to test the hypothesis that genetic variation of the platelet glycoprotein 1b&#945; gene(which includes rs2243093 Kozak variant (n=1984 cases and n=1932 controls) influences ischemic stroke clinical outcome. The study found that there is a strong association (dominant inheritance pattern) with risk of ischemic stroke, but the direction of rs2243093 association is variable and unclear. The authors suggest that the Kozak sequence polymorphism may be associated with another causative locus responsible for an increase in ischemic stroke risk.

C;C

A case-control study of Chinese Han patients reported that the rs2243093 (C;C) genotype has an increase risk for coronary heart disease. A meta-analysis was performed and found that there is a strong association with risk of ischemic stroke, however, the authors suggest that this polymorphism may actually be linked with another (unknown) locus that is the culprit responsible for the increase in ischemic stroke risk.

C;T

The rs2243093 locus is located in the platelet glycoprotein (1bα) gene and is associated with an increase risk of coronary heart disease and ischemic stroke. However, the magnitude of risk for heterozygous individuals (C;T) that are carriers for the C allele is currently unclear.

T;T

The rs2243093 locus is located in the platelet glycoprotein (1bα) gene. This locus is associated with an increase risk for coronary heart disease and ischemic stroke. However, individuals who possess (T;T) are believed to be less at risk than those who possess a (C;C) genotype.

Source and license

Adapted from rs2243093 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.