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rs864309703

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864309703(A;A)
Make rs864309703(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position147908106
GeneGJA8
is asnp
is mentioned by
dbSNPrs864309703
dbSNP (classic)rs864309703
ClinGenrs864309703
ebirs864309703
HLIrs864309703
Exacrs864309703
Gnomadrs864309703
Varsomers864309703
LitVarrs864309703
Maprs864309703
PheGenIrs864309703
Biobankrs864309703
1000 genomesrs864309703
hgdprs864309703
ensemblrs864309703
geneviewrs864309703
scholarrs864309703
googlers864309703
pharmgkbrs864309703
gwascentralrs864309703
openSNPrs864309703
23andMers864309703
SNPshotrs864309703
SNPdbers864309703
MSV3drs864309703
GWAS Ctlgrs864309703
Max Magnitude0
ClinVar
Risk rs864309703(A;A)
Alt rs864309703(A;A)
Reference Rs864309703(G;G)
Significance Probable-Pathogenic
Disease Congenital cataract
Variation info
Gene GJA8
CLNDBN Congenital cataract
Reversed 0
HGVS NC_000001.10:g.147380233G>A
CLNSRC
CLNACC RCV000203342.1,