rs11260867
A SNP in the EPHA2 gene on chromosome 1. Its most notable genotype is C;C: normal
- Gene
- EPHA2
- Location
- Chr 116,115,233 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- Not on consumer chips
- Minor allele frequency
- 9%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableNot ratednormal
- C;GNot ratedweakly associated with increased cataract risk
- G;GNot rated~2x increased risk for cataracts
On SNPedia: (C;C), (C;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 4 HapMap populations.
- AverageC;C 89% C;G 11% G;G 0%
- European ancestry (Utah)C;C 63% C;G 38% G;G 0%
- Han Chinese (Beijing)C;C 98% C;G 2% G;G 0%
- Japanese (Tokyo)C;C 100% C;G 0% G;G 0%
- Yoruba (Nigeria)C;C 95% C;G 5% G;G 0%
Related
Conditions, medicines and genes
Notes
From SNPedia
Notes
rs11260867 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 rs11260867, the (G;G) genotype was as 1.5 - 2.3x increased risk for cataracts (p < 0.007).
Source and license
Adapted from rs11260867 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.