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rs116840818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840818(A;A)
Make rs116840818(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71223894
GeneGJB1
is asnp
is mentioned by
dbSNPrs116840818
ebirs116840818
HLIrs116840818
Exacrs116840818
Varsomers116840818
Maprs116840818
PheGenIrs116840818
hapmaprs116840818
1000 genomesrs116840818
hgdprs116840818
ensemblrs116840818
gopubmedrs116840818
geneviewrs116840818
scholarrs116840818
googlers116840818
pharmgkbrs116840818
gwascentralrs116840818
openSNPrs116840818
23andMers116840818
23andMe allrs116840818
SNP Nexus

SNPshotrs116840818
SNPdbers116840818
MSV3drs116840818
GWAS Ctlgrs116840818
Max Magnitude0
ClinVar
Risk rs116840818(A;A)
Alt rs116840818(A;A)
Reference rs116840818(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.70443744G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020171.1, RCV000217618.1,