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rs863224471

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224471(C;T)
Make rs863224471(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71224254
GeneGJB1
is asnp
is mentioned by
dbSNPrs863224471
ebirs863224471
HLIrs863224471
Exacrs863224471
Varsomers863224471
Maprs863224471
PheGenIrs863224471
hapmaprs863224471
1000 genomesrs863224471
hgdprs863224471
ensemblrs863224471
gopubmedrs863224471
geneviewrs863224471
scholarrs863224471
googlers863224471
pharmgkbrs863224471
gwascentralrs863224471
openSNPrs863224471
23andMers863224471
23andMe allrs863224471
SNP Nexus

SNPshotrs863224471
SNPdbers863224471
MSV3drs863224471
GWAS Ctlgrs863224471
Max Magnitude0
ClinVar
Risk rs863224471(T;T)
Alt rs863224471(T;T)
Reference rs863224471(C;C)
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.70444104C>T
CLNSRC
CLNACC RCV000197033.1, RCV000235360.1,