rs9300039

A SNP on chromosome 11. Its most notable genotype is A;A: normal risk

Gene
None listed
Location
Chr 1141,893,816 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
13%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableGoodnormal riskTypical · 0.02% of people
  2. A;CBad1.5x risk for T2DTypical · 0.028% of people
  3. C;CBad>1.5x risk for T2DTypical · 0.070% of people

On SNPedia: (A;A), (A;C), (C;C). 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 2% A;C 28% C;C 70%
  • European ancestry (Utah)A;A 0% A;C 26% C;C 74%
  • Han Chinese (Beijing)A;A 7% A;C 47% C;C 47%
  • Japanese (Tokyo)A;A 2% A;C 51% C;C 47%
  • Yoruba (Nigeria)A;A <1% A;C 29% C;C 71%
  • African ancestry (Southwest US)A;A 0% A;C 16% C;C 84%
  • Chinese (Denver)A;A 10% A;C 42% C;C 48%
  • Gujarati IndianA;A 1% A;C 33% C;C 66%
  • Luhya (Kenya)A;A <1% A;C 31% C;C 68%
  • Mexican ancestry (Los Angeles)A;A 2% A;C 7% C;C 91%
  • Maasai (Kenya)A;A 0% A;C 15% C;C 85%
  • TuscanA;A 0% A;C 12% C;C 88%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 290 words

rs9300039, a SNP on chromosome 11 that is unusual is being over 1,000,000 base-pairs away from the nearest known gene, has been identified as a risk factor for type-2 diabetes in a study of over 2,000 Caucasian patients. The odds ratio for the risk allele rs9300039(C) was 1.48, (CI: 1.28-1.71, p=5.7x10e-8). This SNP is also mentioned in a related blog series. Called into question by table 1 of Heterogeneity in meta-analyses of genome-wide association investigations. Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies. Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population. Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment. Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies. Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population. Exchangeable models of complex inherited diseases. Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians. Gestational diabetes mellitus screening based on the gene chip technique. is-rSNP: a novel technique for in silico regulatory SNP detection. Genetic risk profiling for prediction of type 2 diabetes. Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.

Source and license

Adapted from rs9300039 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.