Rs7543472

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Orientationplus
Geno Mag Summary
(C;C) normal
(C;T) weakly associated with increased cataract risk
(T;T) ~2x increased risk for cataracts
ReferenceGRCh38 38.1/141
Chromosome1
Position16113897
is asnp
is mentioned by
dbSNPrs7543472
Exacrs7543472
PheGenIrs7543472
nextbiors7543472
hapmaprs7543472
1000 genomesrs7543472
hgdprs7543472
ensemblrs7543472
gopubmedrs7543472
geneviewrs7543472
scholarrs7543472
googlers7543472
pharmgkbrs7543472
gwascentralrs7543472
openSNPrs7543472
23andMers7543472
23andMe allrs7543472
SNP Nexus

SNPshotrs7543472
SNPdbers7543472
MSV3drs7543472
GMAF0.2002
? (C;C) (C;T) (T;T) 28
rs7543472 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 rs7543472, the (T;T) genotype was as 1.9 - 2.1x increased risk for cataracts (p < 0.01). [PMID 19005574OA-icon.png]

OMIM116600
Desc
Variant
Relatedalso
OMIM613020
Desc
Variant
Relatedalso