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rs121917823

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917823(A;G)
Make rs121917823(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position20143101
GeneGJA3
is asnp
is mentioned by
dbSNPrs121917823
dbSNP (classic)rs121917823
ClinGenrs121917823
ebirs121917823
HLIrs121917823
Exacrs121917823
Gnomadrs121917823
Varsomers121917823
LitVarrs121917823
Maprs121917823
PheGenIrs121917823
Biobankrs121917823
1000 genomesrs121917823
hgdprs121917823
ensemblrs121917823
geneviewrs121917823
scholarrs121917823
googlers121917823
pharmgkbrs121917823
gwascentralrs121917823
openSNPrs121917823
23andMers121917823
SNPshotrs121917823
SNPdbers121917823
MSV3drs121917823
GWAS Ctlgrs121917823
Max Magnitude0
ClinVar
Risk rs121917823(G;G)
Alt rs121917823(G;G)
Reference Rs121917823(A;A)
Significance Pathogenic
Disease Zonular pulverulent cataract 3
Variation info
Gene GJA3
CLNDBN Zonular pulverulent cataract 3
Reversed 1
HGVS NC_000013.10:g.20717240T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018499.25,