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rs116840822

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840822(A;A)
Make rs116840822(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71224243
GeneGJB1
is asnp
is mentioned by
dbSNPrs116840822
ebirs116840822
HLIrs116840822
Exacrs116840822
Varsomers116840822
Maprs116840822
PheGenIrs116840822
hapmaprs116840822
1000 genomesrs116840822
hgdprs116840822
ensemblrs116840822
gopubmedrs116840822
geneviewrs116840822
scholarrs116840822
googlers116840822
pharmgkbrs116840822
gwascentralrs116840822
openSNPrs116840822
23andMers116840822
23andMe allrs116840822
SNP Nexus

SNPshotrs116840822
SNPdbers116840822
MSV3drs116840822
GWAS Ctlgrs116840822
Max Magnitude0
ClinVar
Risk rs116840822(A;A)
Alt rs116840822(A;A)
Reference rs116840822(G;G)
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.70444093G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020175.1, RCV000220506.1,