Rs11260867

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Orientationplus
Geno Mag Summary
(C;C) normal
(C;G) weakly associated with increased cataract risk
(G;G) ~2x increased risk for cataracts
ReferenceGRCh38 38.1/141
Chromosome1
Position16115233
GeneEPHA2
is asnp
is mentioned by
dbSNPrs11260867
PheGenIrs11260867
nextbiors11260867
hapmaprs11260867
1000 genomesrs11260867
hgdprs11260867
ensemblrs11260867
gopubmedrs11260867
geneviewrs11260867
scholarrs11260867
googlers11260867
pharmgkbrs11260867
gwascentralrs11260867
openSNPrs11260867
23andMers11260867
23andMe allrs11260867
SNP Nexus

SNPshotrs11260867
SNPdbers11260867
MSV3drs11260867
GMAF0.08861
Max Magnitude
? (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 19005574OA-icon.png]

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 19005574OA-icon.png]

OMIM116600
Desc
Variant
Relatedalso
OMIM613020
Desc
Variant
Relatedalso