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rs863224472

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224472(A;A)
Make rs863224472(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71223716
GeneGJB1
is asnp
is mentioned by
dbSNPrs863224472
ebirs863224472
HLIrs863224472
Exacrs863224472
Varsomers863224472
Maprs863224472
PheGenIrs863224472
hapmaprs863224472
1000 genomesrs863224472
hgdprs863224472
ensemblrs863224472
gopubmedrs863224472
geneviewrs863224472
scholarrs863224472
googlers863224472
pharmgkbrs863224472
gwascentralrs863224472
openSNPrs863224472
23andMers863224472
23andMe allrs863224472
SNP Nexus

SNPshotrs863224472
SNPdbers863224472
MSV3drs863224472
GWAS Ctlgrs863224472
Max Magnitude0
ClinVar
Risk rs863224472(A;A)
Alt rs863224472(A;A)
Reference rs863224472(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth Neuropathy X
Variation info
Gene GJB1
CLNDBN Charcot-Marie-Tooth Neuropathy X
Reversed 0
HGVS NC_000023.10:g.70443566G>A
CLNSRC
CLNACC RCV000199286.1,