rs9465871

A SNP in the CDKAL1 gene on chromosome 6. Its most notable genotype is C;C: 2.2x risk type-2 diabetes

Gene
CDKAL1
Location
Chr 620,717,024 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
36%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableBad2.2x risk type-2 diabetesTypical · 0.020% of people
  2. C;TBad1.2x risk type-2 diabetesTypical · 0.043% of people
  3. T;TNot ratednormalTypical · 0.037% 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 20% C;T 43% T;T 37%
  • European ancestry (Utah)C;C 4% C;T 26% T;T 71%
  • Han Chinese (Beijing)C;C 26% C;T 50% T;T 23%
  • Japanese (Tokyo)C;C 22% C;T 47% T;T 31%
  • Yoruba (Nigeria)C;C 36% C;T 43% T;T 21%
  • African ancestry (Southwest US)C;C 23% C;T 60% T;T 18%
  • Chinese (Denver)C;C 30% C;T 42% T;T 28%
  • Gujarati IndianC;C 2% C;T 39% T;T 59%
  • Luhya (Kenya)C;C 36% C;T 51% T;T 13%
  • Mexican ancestry (Los Angeles)C;C 9% C;T 47% T;T 45%
  • Maasai (Kenya)C;C 26% C;T 47% T;T 27%
  • TuscanC;C 4% C;T 24% T;T 73%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 210 words

rs9465871 has been reported in a large study to be associated with type-2 diabetes. The risk allele (oriented to the dbSNP entry) is (C); the odds ratio associated with heterozygotes is 1.18 (CI 1.04-1.34), and for homozygotes, 2.17 (CI 1.6-2.95). When combined, each additional risk allele from rs9465871, rs10811661, rs4402960, and rs13266634 increased the risk for type 2 diabetes by 1.24-fold (P = 2.85 x 10(-7)) or for combined IFG/type 2 diabetes by 1.21-fold (P = 6.31 x 10(-11)) in Chinese Hans Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment. PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies. Association of a cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (CDKAL1) polymorphism with elevated hemoglobin A(1)(c) levels and the prevalence of metabolic syndrome in Japanese men: interaction with dietary energy intake. Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender.

Source and license

Adapted from rs9465871 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.