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rs104894826

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894826(C;C)
Make rs104894826(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71224114
GeneGJB1
is asnp
is mentioned by
dbSNPrs104894826
ebirs104894826
HLIrs104894826
Exacrs104894826
Varsomers104894826
Maprs104894826
PheGenIrs104894826
hapmaprs104894826
1000 genomesrs104894826
hgdprs104894826
ensemblrs104894826
gopubmedrs104894826
geneviewrs104894826
scholarrs104894826
googlers104894826
pharmgkbrs104894826
gwascentralrs104894826
openSNPrs104894826
23andMers104894826
23andMe allrs104894826
SNP Nexus

SNPshotrs104894826
SNPdbers104894826
MSV3drs104894826
GWAS Ctlgrs104894826
Max Magnitude0
OMIM304040
Desc
Variant0021
Relatedalso
ClinVar
Risk rs104894826(C;C)
Alt rs104894826(C;C)
Reference rs104894826(T;T)
Significance Pathogenic
Disease X-linked hereditary motor and sensory neuropathy Dejerine-Sottas disease
Variation info
Gene GJB1
CLNDBN X-linked hereditary motor and sensory neuropathy Dejerine-Sottas disease
Reversed 0
HGVS NC_000023.10:g.70443964T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011196.4, RCV000011197.4,