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rs397514704

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514704(A;A)
Make rs397514704(A;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20142673
GeneGJA3
is asnp
is mentioned by
dbSNPrs397514704
ebirs397514704
HLIrs397514704
Exacrs397514704
Varsomers397514704
Maprs397514704
PheGenIrs397514704
hapmaprs397514704
1000 genomesrs397514704
hgdprs397514704
ensemblrs397514704
gopubmedrs397514704
geneviewrs397514704
scholarrs397514704
googlers397514704
pharmgkbrs397514704
gwascentralrs397514704
openSNPrs397514704
23andMers397514704
23andMe allrs397514704
SNP Nexus

SNPshotrs397514704
SNPdbers397514704
MSV3drs397514704
GWAS Ctlgrs397514704
Max Magnitude0
ClinVar
Risk rs397514704(A;A)
Alt rs397514704(A;A)
Reference rs397514704(T;T)
Significance Pathogenic
Disease Zonular pulverulent cataract 3
Variation info
Gene GJA3
CLNDBN Zonular pulverulent cataract 3
Reversed 1
HGVS NC_000013.10:g.20716812A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043650.28,