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rs116840816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840816(C;C)
Make rs116840816(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71223830
GeneGJB1
is asnp
is mentioned by
dbSNPrs116840816
ebirs116840816
HLIrs116840816
Exacrs116840816
Varsomers116840816
Maprs116840816
PheGenIrs116840816
hapmaprs116840816
1000 genomesrs116840816
hgdprs116840816
ensemblrs116840816
gopubmedrs116840816
geneviewrs116840816
scholarrs116840816
googlers116840816
pharmgkbrs116840816
gwascentralrs116840816
openSNPrs116840816
23andMers116840816
23andMe allrs116840816
SNP Nexus

SNPshotrs116840816
SNPdbers116840816
MSV3drs116840816
GWAS Ctlgrs116840816
Max Magnitude0
ClinVar
Risk rs116840816(C;C)
Alt rs116840816(C;C)
Reference rs116840816(G;G)
Significance Pathogenic
Disease X-linked hereditary motor and sensory neuropathy
Variation info
Gene GJB1
CLNDBN X-linked hereditary motor and sensory neuropathy
Reversed 0
HGVS NC_000023.10:g.70443680G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020169.1,