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rs116840817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs116840817(C;C)
Make rs116840817(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71223852
GeneGJB1
is asnp
is mentioned by
dbSNPrs116840817
ebirs116840817
HLIrs116840817
Exacrs116840817
Varsomers116840817
Maprs116840817
PheGenIrs116840817
hapmaprs116840817
1000 genomesrs116840817
hgdprs116840817
ensemblrs116840817
gopubmedrs116840817
geneviewrs116840817
scholarrs116840817
googlers116840817
pharmgkbrs116840817
gwascentralrs116840817
openSNPrs116840817
23andMers116840817
23andMe allrs116840817
SNP Nexus

SNPshotrs116840817
SNPdbers116840817
MSV3drs116840817
GWAS Ctlgrs116840817
Max Magnitude0
ClinVar
Risk rs116840817(C;C)
Alt rs116840817(C;C)
Reference rs116840817(T;T)
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.70443702T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020170.1,