rs2383206
A SNP in the CDKN2BAS gene on chromosome 9. Its most notable genotype is G;G: 1.7x increased risk for heart disease
- Gene
- CDKN2BAS
- Location
- Chr 922,115,027 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 49%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodnormal
- A;GBad1.4x increased risk for heart disease
- G;GMost notableBad1.7x increased risk for heart disease
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 4 HapMap populations.
- AverageA;A 26% A;G 51% G;G 22%
- European ancestry (Utah)A;A 19% A;G 57% G;G 25%
- Han Chinese (Beijing)A;A 29% A;G 51% G;G 20%
- Japanese (Tokyo)A;A 25% A;G 50% G;G 25%
- Yoruba (Nigeria)A;A 33% A;G 48% G;G 19%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 210 words
rs10757274 and rs2383206 can significantly increase the risk of heart diseasesciencemag.org. About one in every four Caucasians are thought to carry the variants, and their risk of coronary heart disease is increased by 30 to 40%. rs10757278 in the same region has been linked to diabetes forbes.com. The chromosomal region where these SNPs are located is 9p21, and has no known genes. a blog post about investigating rs10757274 and rs2383206 This SNP was also associated with increased risk for coronary artery disease in a Korean population. Also found to be significant in a study of 416 Italian myocardial infarction patients. A study of 1,000+ patients with early-onset angiographic coronary artery disease (CAD) concluded that rs2383206(G) was associated with an adjusted odds ratio of 1.39 (CI: 1.05-1.85) for (A;G) heterozygotes and 1.73 (CI: 1.26-2.37) for (G;G) homozygotes. This SNP alone accounted for 21% of the population attributable fraction and was independent of traditional risk factors, myocardial infarction risk, and the extent of disease.
G;G
23andMe blog People with this genotype and a long history of high blood sugar are at 7x risk of CAD
Source and license
Adapted from rs2383206 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.