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rs137853200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853200(C;T)
Make rs137853200(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position16129440
GeneEPHA2
is asnp
is mentioned by
dbSNPrs137853200
ebirs137853200
HLIrs137853200
Exacrs137853200
Varsomers137853200
Maprs137853200
PheGenIrs137853200
hapmaprs137853200
1000 genomesrs137853200
hgdprs137853200
ensemblrs137853200
gopubmedrs137853200
geneviewrs137853200
scholarrs137853200
googlers137853200
pharmgkbrs137853200
gwascentralrs137853200
openSNPrs137853200
23andMers137853200
23andMe allrs137853200
SNP Nexus

SNPshotrs137853200
SNPdbers137853200
MSV3drs137853200
GWAS Ctlgrs137853200
Max Magnitude0
OMIM176946
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853200(T;T)
Alt rs137853200(T;T)
Reference rs137853200(C;C)
Significance Pathogenic
Disease Cataract 6
Variation info
Gene EPHA2
CLNDBN Cataract 6, multiple types
Reversed 1
HGVS NC_000001.10:g.16455935G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014169.18,