rs2811712

A SNP in the CDKN2BAS gene on chromosome 9. Its most notable genotype is G;G: >1.5x less risk for physical impairment with age.

Gene
CDKN2BAS
Location
Chr 921,998,036 (GRCh38)
Highest magnitude
2.1Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
16%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ABadNormal (higher) risk of physical impairment with age.Worth knowing · 2.069% of people
  2. A;GGood1.5x less risk for physical impairment with age.Worth knowing · 2.028% of people
  3. G;GMost notableGood>1.5x less risk for physical impairment with age.Worth knowing · 2.14% 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 69% A;G 28% G;G 4%
  • European ancestry (Utah)A;A 87% A;G 12% G;G <1%
  • Han Chinese (Beijing)A;A 60% A;G 38% G;G 2%
  • Japanese (Tokyo)A;A 63% A;G 31% G;G 6%
  • Yoruba (Nigeria)A;A 57% A;G 42% G;G 2%
  • African ancestry (Southwest US)A;A 51% A;G 40% G;G 9%
  • Chinese (Denver)A;A 58% A;G 34% G;G 8%
  • Gujarati IndianA;A 87% A;G 11% G;G 2%
  • Luhya (Kenya)A;A 56% A;G 37% G;G 7%
  • Mexican ancestry (Los Angeles)A;A 90% A;G 10% G;G 0%
  • Maasai (Kenya)A;A 67% A;G 32% G;G 2%
  • TuscanA;A 81% A;G 17% G;G 2%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 230 words

rs2811712 is a SNP associated with physical function in older individuals, and thus indirectly associated with longevity. In a study ultimately totaling over 3,300 elderly Caucasian individuals, the less common rs2811712(G) allele was associated with reduced physical impairment. Overall, severely limited physical function was present in 15.0% of the more common rs2811712(A;A) homozygotes, versus 7.0% of the rs2811712(G;G) homozygotes, yielding a per risk allele odds ratio of 1.48 (CI: 1.17-1.88, p=0.001). Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population. Consortium analysis of 7 candidate SNPs for ovarian cancer. Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk. INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis. Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.

A;A

This causes physical problems for older people, and Cerebral Small Vessel Disease in the brain.

A;G

This reduces the rate of physical problems with aging. It also reduces the risk of Cerebral Small Vessel Disease in the brain.

G;G

This reduces the rate of physical problems with aging. It also reduces the risk of Cerebral Small Vessel Disease in the brain.

Source and license

Adapted from rs2811712 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.