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rs864309684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs864309684(-;T)
Make rs864309684(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position147908044
GeneGJA8
is asnp
is mentioned by
dbSNPrs864309684
dbSNP (classic)rs864309684
ClinGenrs864309684
ebirs864309684
HLIrs864309684
Exacrs864309684
Gnomadrs864309684
Varsomers864309684
LitVarrs864309684
Maprs864309684
PheGenIrs864309684
Biobankrs864309684
1000 genomesrs864309684
hgdprs864309684
ensemblrs864309684
geneviewrs864309684
scholarrs864309684
googlers864309684
pharmgkbrs864309684
gwascentralrs864309684
openSNPrs864309684
23andMers864309684
SNPshotrs864309684
SNPdbers864309684
MSV3drs864309684
GWAS Ctlgrs864309684
Max Magnitude0
ClinVar
Risk rs864309684(T;T)
Alt rs864309684(T;T)
Reference Rs864309684(-;-)
Significance Pathogenic
Disease Congenital cataract
Variation info
Gene GJA8
CLNDBN Congenital cataract
Reversed 0
HGVS NC_000001.10:g.147380171dupT
CLNSRC
CLNACC RCV000203335.1,