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rs863224973

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224973(C;T)
Make rs863224973(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71224026
GeneGJB1
is asnp
is mentioned by
dbSNPrs863224973
ebirs863224973
HLIrs863224973
Exacrs863224973
Varsomers863224973
Maprs863224973
PheGenIrs863224973
hapmaprs863224973
1000 genomesrs863224973
hgdprs863224973
ensemblrs863224973
gopubmedrs863224973
geneviewrs863224973
scholarrs863224973
googlers863224973
pharmgkbrs863224973
gwascentralrs863224973
openSNPrs863224973
23andMers863224973
23andMe allrs863224973
SNP Nexus

SNPshotrs863224973
SNPdbers863224973
MSV3drs863224973
GWAS Ctlgrs863224973
Max Magnitude0
ClinVar
Risk rs863224973(T;T)
Alt rs863224973(T;T)
Reference rs863224973(C;C)
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.70443876C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201004.1,