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rs864309688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864309688(C;C)
Make rs864309688(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position147908089
GeneGJA8
is asnp
is mentioned by
dbSNPrs864309688
dbSNP (classic)rs864309688
ClinGenrs864309688
ebirs864309688
HLIrs864309688
Exacrs864309688
Gnomadrs864309688
Varsomers864309688
LitVarrs864309688
Maprs864309688
PheGenIrs864309688
Biobankrs864309688
1000 genomesrs864309688
hgdprs864309688
ensemblrs864309688
geneviewrs864309688
scholarrs864309688
googlers864309688
pharmgkbrs864309688
gwascentralrs864309688
openSNPrs864309688
23andMers864309688
SNPshotrs864309688
SNPdbers864309688
MSV3drs864309688
GWAS Ctlgrs864309688
Max Magnitude0
ClinVar
Risk rs864309688(C;C)
Alt rs864309688(C;C)
Reference Rs864309688(G;G)
Significance Pathogenic
Disease Congenital cataract
Variation info
Gene GJA8
CLNDBN Congenital cataract
Reversed 0
HGVS NC_000001.10:g.147380216G>C
CLNSRC
CLNACC RCV000203313.1,