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rs397515627

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515627(C;T)
Make rs397515627(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position147908521
GeneGJA8, LOC105371229
is asnp
is mentioned by
dbSNPrs397515627
dbSNP (classic)rs397515627
ClinGenrs397515627
ebirs397515627
HLIrs397515627
Exacrs397515627
Gnomadrs397515627
Varsomers397515627
LitVarrs397515627
Maprs397515627
PheGenIrs397515627
Biobankrs397515627
1000 genomesrs397515627
hgdprs397515627
ensemblrs397515627
geneviewrs397515627
scholarrs397515627
googlers397515627
pharmgkbrs397515627
gwascentralrs397515627
openSNPrs397515627
23andMers397515627
SNPshotrs397515627
SNPdbers397515627
MSV3drs397515627
GWAS Ctlgrs397515627
Max Magnitude0
ClinVar
Risk rs397515627(T;T)
Alt rs397515627(T;T)
Reference Rs397515627(C;C)
Significance Pathogenic
Disease Cataract 1
Variation info
Gene GJA8
CLNDBN Cataract 1
Reversed 0
HGVS NC_000001.10:g.147380648C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000059334.2,