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rs137853199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853199(G;T)
Make rs137853199(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position16125304
GeneEPHA2
is asnp
is mentioned by
dbSNPrs137853199
dbSNP (classic)rs137853199
ClinGenrs137853199
ebirs137853199
HLIrs137853199
Exacrs137853199
Gnomadrs137853199
Varsomers137853199
LitVarrs137853199
Maprs137853199
PheGenIrs137853199
Biobankrs137853199
1000 genomesrs137853199
hgdprs137853199
ensemblrs137853199
geneviewrs137853199
scholarrs137853199
googlers137853199
pharmgkbrs137853199
gwascentralrs137853199
openSNPrs137853199
23andMers137853199
SNPshotrs137853199
SNPdbers137853199
MSV3drs137853199
GWAS Ctlgrs137853199
Max Magnitude0
OMIM176946
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853199(T;T)
Alt rs137853199(T;T)
Reference Rs137853199(G;G)
Significance Pathogenic
Disease Cataract 6
Variation info
Gene EPHA2
CLNDBN Cataract 6, multiple types
Reversed 1
HGVS NC_000001.10:g.16451799C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014168.24,