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rs864309677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864309677(C;T)
Make rs864309677(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position147908074
GeneGJA8
is asnp
is mentioned by
dbSNPrs864309677
dbSNP (classic)rs864309677
ClinGenrs864309677
ebirs864309677
HLIrs864309677
Exacrs864309677
Gnomadrs864309677
Varsomers864309677
LitVarrs864309677
Maprs864309677
PheGenIrs864309677
Biobankrs864309677
1000 genomesrs864309677
hgdprs864309677
ensemblrs864309677
geneviewrs864309677
scholarrs864309677
googlers864309677
pharmgkbrs864309677
gwascentralrs864309677
openSNPrs864309677
23andMers864309677
SNPshotrs864309677
SNPdbers864309677
MSV3drs864309677
GWAS Ctlgrs864309677
Max Magnitude0
ClinVar
Risk rs864309677(T;T)
Alt rs864309677(T;T)
Reference Rs864309677(C;C)
Significance Probable-Pathogenic
Disease Congenital cataract
Variation info
Gene GJA8
CLNDBN Congenital cataract
Reversed 0
HGVS NC_000001.10:g.147380201C>T
CLNSRC
CLNACC RCV000203331.1,