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

rs104894810

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894810(C;T)
Make rs104894810(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71224131
GeneGJB1
is asnp
is mentioned by
dbSNPrs104894810
ebirs104894810
HLIrs104894810
Exacrs104894810
Varsomers104894810
Maprs104894810
PheGenIrs104894810
hapmaprs104894810
1000 genomesrs104894810
hgdprs104894810
ensemblrs104894810
gopubmedrs104894810
geneviewrs104894810
scholarrs104894810
googlers104894810
pharmgkbrs104894810
gwascentralrs104894810
openSNPrs104894810
23andMers104894810
23andMe allrs104894810
SNP Nexus

SNPshotrs104894810
SNPdbers104894810
MSV3drs104894810
GWAS Ctlgrs104894810
Max Magnitude0
OMIM304040
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894810(T;T)
Alt rs104894810(T;T)
Reference rs104894810(C;C)
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.70443981C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011176.5, RCV000236641.1,