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rs779696968

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs779696968(A;G)
Make rs779696968(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71224012
GeneGJB1
is asnp
is mentioned by
dbSNPrs779696968
dbSNP (classic)rs779696968
ClinGenrs779696968
ebirs779696968
HLIrs779696968
Exacrs779696968
Gnomadrs779696968
Varsomers779696968
LitVarrs779696968
Maprs779696968
PheGenIrs779696968
Biobankrs779696968
1000 genomesrs779696968
hgdprs779696968
ensemblrs779696968
geneviewrs779696968
scholarrs779696968
googlers779696968
pharmgkbrs779696968
gwascentralrs779696968
openSNPrs779696968
23andMers779696968
SNPshotrs779696968
SNPdbers779696968
MSV3drs779696968
GWAS Ctlgrs779696968
Max Magnitude0
ClinVar
Risk rs779696968(G;G)
Alt rs779696968(G;G)
Reference Rs779696968(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth Neuropathy X not provided
Variation info
Gene GJB1
CLNDBN Charcot-Marie-Tooth Neuropathy X not provided
Reversed 0
HGVS NC_000023.10:g.70443862A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000200289.4, RCV000349313.1,