rs3217992

A SNP in the CDKN2B gene on chromosome 9. Its most notable genotype is T;T: 1.24x increased myocardial infarction risk

Gene
CDKN2B
Location
Chr 922,003,224 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
36%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableNot rated1.24x increased myocardial infarction riskTypical · 0.014% of people
  2. C;TNot rated1.24x increased myocardial infarction riskTypical · 0.039% of people
  3. C;CNot ratednormalTypical · 0.047% of people

SNPedia records rs3217992 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 14% C;T 39% C;C 47%
  • European ancestry (Utah)T;T 16% C;T 42% C;C 41%
  • Han Chinese (Beijing)T;T 24% C;T 51% C;C 26%
  • Japanese (Tokyo)T;T 34% C;T 46% C;C 21%
  • Yoruba (Nigeria)T;T 2% C;T 19% C;C 80%
  • African ancestry (Southwest US)T;T 4% C;T 28% C;C 68%
  • Chinese (Denver)T;T 24% C;T 49% C;C 27%
  • Gujarati IndianT;T 19% C;T 49% C;C 33%
  • Luhya (Kenya)T;T 0% C;T 17% C;C 83%
  • Mexican ancestry (Los Angeles)T;T 16% C;T 50% C;C 34%
  • Maasai (Kenya)T;T 1% C;T 27% C;C 72%
  • TuscanT;T 18% C;T 50% C;C 32%

Other CDKN2B SNPs

All CDKN2B SNPs

Notes

From SNPedia

Notes

rs3217992 is a SNP in the cyclin-dependent kinase inhibitor 2B CDKN2B gene. A study of 432 Han Chinese patients with myocardial infarctions concluded that male subjects carrying a rs3217992(A) allele were at 1.24x increased risk (for MI). Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression. Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk. Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population. A common variant of the p16(INK4a) genetic region is associated with physical function in older people.

Source and license

Adapted from rs3217992 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.