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rs116840815

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840815(C;T)
Make rs116840815(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71223750
GeneGJB1
is asnp
is mentioned by
dbSNPrs116840815
ebirs116840815
HLIrs116840815
Exacrs116840815
Varsomers116840815
Maprs116840815
PheGenIrs116840815
hapmaprs116840815
1000 genomesrs116840815
hgdprs116840815
ensemblrs116840815
gopubmedrs116840815
geneviewrs116840815
scholarrs116840815
googlers116840815
pharmgkbrs116840815
gwascentralrs116840815
openSNPrs116840815
23andMers116840815
23andMe allrs116840815
SNP Nexus

SNPshotrs116840815
SNPdbers116840815
MSV3drs116840815
GWAS Ctlgrs116840815
Max Magnitude0
ClinVar
Risk rs116840815(T;T)
Alt rs116840815(T;T)
Reference rs116840815(C;C)
Significance Pathogenic
Disease X-linked hereditary motor and sensory neuropathy Charcot-Marie-Tooth Neuropathy X not provided
Variation info
Gene GJB1
CLNDBN X-linked hereditary motor and sensory neuropathy Charcot-Marie-Tooth Neuropathy X not provided
Reversed 0
HGVS NC_000023.10:g.70443600C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020174.1, RCV000167902.1, RCV000236824.1,