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rs863224612

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863224612(G;G)
Make rs863224612(G;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71223820
GeneGJB1
is asnp
is mentioned by
dbSNPrs863224612
ebirs863224612
HLIrs863224612
Exacrs863224612
Varsomers863224612
Maprs863224612
PheGenIrs863224612
hapmaprs863224612
1000 genomesrs863224612
hgdprs863224612
ensemblrs863224612
gopubmedrs863224612
geneviewrs863224612
scholarrs863224612
googlers863224612
pharmgkbrs863224612
gwascentralrs863224612
openSNPrs863224612
23andMers863224612
23andMe allrs863224612
SNP Nexus

SNPshotrs863224612
SNPdbers863224612
MSV3drs863224612
GWAS Ctlgrs863224612
Max Magnitude0
ClinVar
Risk rs863224612(G;G)
Alt rs863224612(G;G)
Reference rs863224612(T;T)
Significance Probable-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.70443670T>G
CLNSRC
CLNACC RCV000199414.1, RCV000235965.1,