rs1333040

A SNP in the CDKN2BAS gene on chromosome 9. Its most notable genotype is C;C: normal

Gene
CDKN2BAS
Location
Chr 922,083,405 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
38%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableNot ratednormalTypical · 0.013% of people
  2. C;TBad1.24x increased myocardial infarction risk, ~1.24x increased intracranial aneurysm riskTypical · 0.048% of people
  3. T;TBad1.52x increased myocardial infarction risk, ~1.54x increased intracranial aneurysm riskTypical · 0.039% 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 13% C;T 48% T;T 39%
  • European ancestry (Utah)C;C 20% C;T 50% T;T 31%
  • Han Chinese (Beijing)C;C 10% C;T 48% T;T 42%
  • Japanese (Tokyo)C;C 10% C;T 39% T;T 51%
  • Yoruba (Nigeria)C;C 8% C;T 52% T;T 41%
  • African ancestry (Southwest US)C;C 11% C;T 56% T;T 33%
  • Chinese (Denver)C;C 10% C;T 39% T;T 51%
  • Gujarati IndianC;C 20% C;T 52% T;T 29%
  • Luhya (Kenya)C;C 16% C;T 44% T;T 41%
  • Mexican ancestry (Los Angeles)C;C 19% C;T 52% T;T 29%
  • Maasai (Kenya)C;C 15% C;T 47% T;T 37%
  • TuscanC;C 10% C;T 50% T;T 40%

Conditions, medicines and genes

Other CDKN2BAS SNPs

All CDKN2BAS SNPs

Notes

From SNPedia

Show notes, about 120 words

A meta-analysis of 116,000 individuals reported an association between rs1333040 and intracranial aneuryms (OR 1.24; 95% CI 1.20–1.29). See PMC3716358 A common variant on chromosome 9p21 affects the risk of myocardial infarction, and is further discussed in this blog post 23andMe blog aneurysm *rs700651 2 G 1.18x risk 1.56x risk *rs10958409 8 A 1.37x risk 1.79x risk *rs1333040 9 T 1.29x risk 1.67x risk Brain Aneurysm

C;T

A meta-analysis of 116,000 individuals reported an association between rs1333040 and intracranial aneuryms (OR 1.24; 95% CI 1.20–1.29). See PMC3716358 - 2013

T;T

A meta-analysis of 116,000 individuals reported an association between rs1333040 and intracranial aneuryms (OR 1.24; 95% CI 1.20–1.29). See PMC3716358 - 2013

Source and license

Adapted from rs1333040 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.