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rs3754334

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs3754334(C;T)
Make rs3754334(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position16125272
GeneEPHA2
is asnp
is mentioned by
dbSNPrs3754334
dbSNP (classic)rs3754334
ClinGenrs3754334
ebirs3754334
HLIrs3754334
Exacrs3754334
Gnomadrs3754334
Varsomers3754334
LitVarrs3754334
Maprs3754334
PheGenIrs3754334
Biobankrs3754334
1000 genomesrs3754334
hgdprs3754334
ensemblrs3754334
geneviewrs3754334
scholarrs3754334
googlers3754334
pharmgkbrs3754334
gwascentralrs3754334
openSNPrs3754334
23andMers3754334
SNPshotrs3754334
SNPdbers3754334
MSV3drs3754334
GWAS Ctlgrs3754334
GMAF0.2296
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[PMID 22412971OA-icon.png] EPHA2 Polymorphisms and Age-Related Cataract in India


[PMID 19005574OA-icon.png] The EPHA2 gene is associated with cataracts linked to chromosome 1p.


[PMID 19649315OA-icon.png] EPHA2 is associated with age-related cortical cataract in mice and humans.


[PMID 20361013OA-icon.png] Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.


ClinVar
Risk rs3754334(T;T)
Alt rs3754334(T;T)
Reference Rs3754334(C;C)
Significance Non-pathogenic
Disease not specified Age-related cortical cataract
Variation info
Gene EPHA2
CLNDBN not specified Age-related cortical cataract
Reversed 1
HGVS NC_000001.10:g.16451767G>A
CLNSRC
CLNACC RCV000244865.1, RCV000304354.1,