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rs139643362

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139643362(C;T)
Make rs139643362(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71224197
GeneGJB1
is asnp
is mentioned by
dbSNPrs139643362
ebirs139643362
HLIrs139643362
Exacrs139643362
Varsomers139643362
Maprs139643362
PheGenIrs139643362
hapmaprs139643362
1000 genomesrs139643362
hgdprs139643362
ensemblrs139643362
gopubmedrs139643362
geneviewrs139643362
scholarrs139643362
googlers139643362
pharmgkbrs139643362
gwascentralrs139643362
openSNPrs139643362
23andMers139643362
23andMe allrs139643362
SNP Nexus

SNPshotrs139643362
SNPdbers139643362
MSV3drs139643362
GWAS Ctlgrs139643362
Max Magnitude0
ClinVar
Risk rs139643362(T;T)
Alt rs139643362(T;T)
Reference rs139643362(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.70444047C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201175.1,