rs2070600

A SNP in the AGER gene on chromosome 6. Its most notable genotype is T;T: 2x higher retinopathy risk in diabetics; 1.5x increased overall risk for gastric cancer

Gene
AGER
Location
Chr 632,183,666 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
7%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBad2x higher retinopathy risk in diabetics; 1.5x increased overall risk for gastric cancerWorth knowing · 2.01% of people
  2. C;TBad1.5x increased risk for gastric cancerWorth knowing · 2.015% of people
  3. C;CGoodnormalTypical · 0.084% of people

SNPedia records rs2070600 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 9 HapMap populations.

  • AverageT;T 1% C;T 15% C;C 84%
  • European ancestry (Utah)T;T <1% C;T 10% C;C 89%
  • Han Chinese (Beijing)T;T 5% C;T 37% C;C 58%
  • Japanese (Tokyo)T;T <1% C;T 24% C;C 75%
  • Yoruba (Nigeria)T;T 0% C;T 1% C;C 99%
  • African ancestry (Southwest US)T;T 0% C;T 4% C;C 97%
  • Chinese (Denver)T;T 4% C;T 36% C;C 61%
  • Gujarati IndianT;T 1% C;T 16% C;C 83%
  • Maasai (Kenya)T;T 0% C;T 3% C;C 97%
  • TuscanT;T 0% C;T 3% C;C 97%

Conditions, medicines and genes

Other AGER SNPs

All AGER SNPs

Notes

From SNPedia

Show notes, about 210 words

rs2070600 (Gly82Ser) is a non-synonymous snp located in exon 3 of AGER (Advanced Glycation End product Receptor). The somewhat more common (G) allele encodes for Glycine (Gly), while the minor (A) allele encodes for Serine (Ser). compared to Gly/Gly genotypes, Gly/Ser and Ser/Ser genotypes associated with significantly higher (adj. OR = 1.47, 95% CI 1.05-2.06, p = 0.0038) chance of gastric cancer in a sample of 566 Chinese individuals (283 cases, 283 age matched controls). in a sample of 1096 Korean men and 580 Korean women... *serum soluble AGER (sRAGE) levels were significantly (p < .001) higher in individuals with Gly/Gly genotypes (1038 +/- 33 pg/mL), compared to Gly/Ser (809 +/- 19 pg/mL) or Ser/Ser genotypes (428 +/- 43 pg/mL). *subjects with Ser/Ser genotypes showed higher levels of serum AGE, HOMA-IR levels (insulin resistance model), plasma TNF-alpha, serum CRP, and 8-epi-prostaglandin F2 alpha. type-1 diabetics (487 t1ds and 351 controls) carrying the Ser allele associated with higher odds of advanced nephropathy (adj. OR = 3.17, 95% CI 1.32-7.85, p = 0.008) A 2016 meta-analysis of Gly82Ser based on ~1500 patients with diabetic retinopathy found a strong association with DR risk using a recessive genetic model (OR 2.4, CI: 1.46–3.97, p = 0.001).

Source and license

Adapted from rs2070600 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.