rs11260867
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | normal | |
| (C;G) | weakly associated with increased cataract risk | |
| (G;G) | ~2x increased risk for cataracts |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 16115233 |
| Gene | EPHA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11260867 |
| dbSNP (classic) | rs11260867 |
| ClinGen | rs11260867 |
| ebi | rs11260867 |
| HLI | rs11260867 |
| Exac | rs11260867 |
| Gnomad | rs11260867 |
| Varsome | rs11260867 |
| LitVar | rs11260867 |
| Map | rs11260867 |
| PheGenI | rs11260867 |
| Biobank | rs11260867 |
| 1000 genomes | rs11260867 |
| hgdp | rs11260867 |
| ensembl | rs11260867 |
| geneview | rs11260867 |
| scholar | rs11260867 |
| rs11260867 | |
| pharmgkb | rs11260867 |
| gwascentral | rs11260867 |
| openSNP | rs11260867 |
| 23andMe | rs11260867 |
| SNPshot | rs11260867 |
| SNPdbe | rs11260867 |
| MSV3d | rs11260867 |
| GWAS Ctlg | rs11260867 |
| GMAF | 0.08861 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs11260867 is a SNP located 3' of the EPHA2 gene, which has at least one putative causative mutation leading to age-related cataracts. [PMID 19005574
]
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). [PMID 19005574]
