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

rs116840820

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840820(-;-)
Make rs116840820(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71223932
GeneGJB1
is asnp
is mentioned by
dbSNPrs116840820
ebirs116840820
HLIrs116840820
Exacrs116840820
Varsomers116840820
Maprs116840820
PheGenIrs116840820
hapmaprs116840820
1000 genomesrs116840820
hgdprs116840820
ensemblrs116840820
gopubmedrs116840820
geneviewrs116840820
scholarrs116840820
googlers116840820
pharmgkbrs116840820
gwascentralrs116840820
openSNPrs116840820
23andMers116840820
23andMe allrs116840820
SNP Nexus

SNPshotrs116840820
SNPdbers116840820
MSV3drs116840820
GWAS Ctlgrs116840820
Max Magnitude0
ClinVar
Risk rs116840820(;)
Alt rs116840820(;)
Reference rs116840820(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.70443782delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020173.1,