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rs863224972

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224972(A;A)
Make rs863224972(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71223931
GeneGJB1
is asnp
is mentioned by
dbSNPrs863224972
ebirs863224972
HLIrs863224972
Exacrs863224972
Varsomers863224972
Maprs863224972
PheGenIrs863224972
hapmaprs863224972
1000 genomesrs863224972
hgdprs863224972
ensemblrs863224972
gopubmedrs863224972
geneviewrs863224972
scholarrs863224972
googlers863224972
pharmgkbrs863224972
gwascentralrs863224972
openSNPrs863224972
23andMers863224972
23andMe allrs863224972
SNP Nexus

SNPshotrs863224972
SNPdbers863224972
MSV3drs863224972
GWAS Ctlgrs863224972
Max Magnitude0
ClinVar
Risk rs863224972(A;A)
Alt rs863224972(A;A)
Reference rs863224972(G;G)
Significance Pathogenic
Disease X-linked hereditary motor and sensory neuropathy
Variation info
Gene GJB1
CLNDBN X-linked hereditary motor and sensory neuropathy
Reversed 0
HGVS NC_000023.10:g.70443781G>A
CLNSRC Quest Diagnostics
CLNACC RCV000201183.1,