Have questions? Visit https://www.reddit.com/r/SNPedia

rs116840819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840819(C;T)
Make rs116840819(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71223930
GeneGJB1
is asnp
is mentioned by
dbSNPrs116840819
ebirs116840819
HLIrs116840819
Exacrs116840819
Varsomers116840819
Maprs116840819
PheGenIrs116840819
hapmaprs116840819
1000 genomesrs116840819
hgdprs116840819
ensemblrs116840819
gopubmedrs116840819
geneviewrs116840819
scholarrs116840819
googlers116840819
pharmgkbrs116840819
gwascentralrs116840819
openSNPrs116840819
23andMers116840819
23andMe allrs116840819
SNP Nexus

SNPshotrs116840819
SNPdbers116840819
MSV3drs116840819
GWAS Ctlgrs116840819
Max Magnitude0
ClinVar
Risk rs116840819(T;T)
Alt rs116840819(T;T)
Reference rs116840819(C;C)
Significance Pathogenic
Disease X-linked hereditary motor and sensory neuropathy not provided
Variation info
Gene GJB1
CLNDBN X-linked hereditary motor and sensory neuropathy not provided
Reversed 0
HGVS NC_000023.10:g.70443780C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020172.1, RCV000236563.1,