rs7543472

A SNP on chromosome 1. Its most notable genotype is C;C: normal

Gene
None listed
Location
Chr 116,113,897 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe
Minor allele frequency
20%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableNot ratednormalTypical · 0.09% of people
  2. C;TNot ratedweakly associated with increased cataract riskTypical · 0.029% of people
  3. T;TNot rated~2x increased risk for cataractsTypical · 0.062% 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 9% C;T 29% T;T 62%
  • European ancestry (Utah)C;C 5% C;T 38% T;T 57%
  • Han Chinese (Beijing)C;C 0% C;T 4% T;T 96%
  • Japanese (Tokyo)C;C 0% C;T 4% T;T 96%
  • Yoruba (Nigeria)C;C 23% C;T 44% T;T 33%
  • African ancestry (Southwest US)C;C 14% C;T 46% T;T 40%
  • Chinese (Denver)C;C 0% C;T 6% T;T 95%
  • Gujarati IndianC;C 5% C;T 33% T;T 62%
  • Luhya (Kenya)C;C 21% C;T 48% T;T 31%
  • Mexican ancestry (Los Angeles)C;C 5% C;T 30% T;T 65%
  • Maasai (Kenya)C;C 25% C;T 44% T;T 31%
  • TuscanC;C 2% C;T 24% T;T 75%

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs7543472 is a SNP located 3' of the EPHA2 gene, which has at least one putative causative mutation leading to age-related cataracts. A study involving a case-control cohort from Northern Italy, comprising 126 unrelated individuals with nuclear cataracts, 119 with cortical cataracts, and 104 unrelated controls with clear lenses, found increased risk associated two SNPs near the EPHA2 gene (rs7543472 and rs11260867). For rs7543472, the (T;T) genotype was as 1.9 - 2.1x increased risk for cataracts (p < 0.01).

Source and license

Adapted from rs7543472 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.