rs2383207

A SNP in the CDKN2BAS gene on chromosome 9. Its most notable genotype is G;G: increased risk for heart disease

Gene
CDKN2BAS
Location
Chr 922,115,960 (GRCh38)
Highest magnitude
2.1Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
33%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodnormalTypical · 0.010% of people
  2. A;GBadincreased risk for heart diseaseWorth knowing · 2.035% of people
  3. G;GMost notableBadincreased risk for heart diseaseWorth knowing · 2.155% of people

On SNPedia: (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.

  • AverageA;A 10% A;G 35% G;G 55%
  • European ancestry (Utah)A;A 26% A;G 52% G;G 22%
  • Han Chinese (Beijing)A;A 10% A;G 51% G;G 39%
  • Japanese (Tokyo)A;A 10% A;G 39% G;G 51%
  • Yoruba (Nigeria)A;A 0% A;G 3% G;G 97%
  • African ancestry (Southwest US)A;A 0% A;G 19% G;G 81%
  • Chinese (Denver)A;A 13% A;G 42% G;G 45%
  • Gujarati IndianA;A 15% A;G 57% G;G 28%
  • Luhya (Kenya)A;A 0% A;G 10% G;G 90%
  • Mexican ancestry (Los Angeles)A;A 16% A;G 53% G;G 31%
  • Maasai (Kenya)A;A <1% A;G 10% G;G 89%
  • TuscanA;A 17% A;G 52% G;G 31%

Conditions, medicines and genes

Other CDKN2BAS SNPs

All CDKN2BAS SNPs

Notes

From SNPedia

Show notes, about 150 words

discussed in this blog post as possibly playing a role in coronary heart disease This SNP was also associated with increased risk for coronary artery disease in a Korean population. The association remained significant after adjusting for significant clinical covariates (P=0.001 to 0.024). We identified one risk haplotype (GGGG; P=0.017) and one protective haplotype (AAAA; P=0.007) for development of CAD. Further analysis suggested that the SNPs probably confer susceptibility to CAD in a dominance model (covariates-adjusted P=0.001 to 0.024; OR=2.37 to 1.54). Also found to be significant in a study of 416 Italian myocardial infarction patients. Found to be associated with coronary heart disease in a study of 1360 Chinese Han patients, with an odds ratio of 1.52 (CI: 1.13 - 2.04) for rs2383207(G;G) individuals. This risk was magnified in subjects who were males, less than 60 years old, overweight, or smokers.

Source and license

Adapted from rs2383207 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.