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rs116840821

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840821(A;A)
Make rs116840821(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71224263
GeneGJB1
is asnp
is mentioned by
dbSNPrs116840821
ebirs116840821
HLIrs116840821
Exacrs116840821
Varsomers116840821
Maprs116840821
PheGenIrs116840821
hapmaprs116840821
1000 genomesrs116840821
hgdprs116840821
ensemblrs116840821
gopubmedrs116840821
geneviewrs116840821
scholarrs116840821
googlers116840821
pharmgkbrs116840821
gwascentralrs116840821
openSNPrs116840821
23andMers116840821
23andMe allrs116840821
SNP Nexus

SNPshotrs116840821
SNPdbers116840821
MSV3drs116840821
GWAS Ctlgrs116840821
Max Magnitude0
ClinVar
Risk rs116840821(A,T;A,T)
Alt rs116840821(A,T;A,T)
Reference rs116840821(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.70444113G>A; NC_000023.10:g.70444113G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020176.1, RCV000214191.1,