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rs104894817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894817(A;A)
Make rs104894817(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71223796
GeneGJB1
is asnp
is mentioned by
dbSNPrs104894817
ebirs104894817
HLIrs104894817
Exacrs104894817
Varsomers104894817
Maprs104894817
PheGenIrs104894817
hapmaprs104894817
1000 genomesrs104894817
hgdprs104894817
ensemblrs104894817
gopubmedrs104894817
geneviewrs104894817
scholarrs104894817
googlers104894817
pharmgkbrs104894817
gwascentralrs104894817
openSNPrs104894817
23andMers104894817
23andMe allrs104894817
SNP Nexus

SNPshotrs104894817
SNPdbers104894817
MSV3drs104894817
GWAS Ctlgrs104894817
Max Magnitude0
OMIM304040
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894817(A;A)
Alt rs104894817(A;A)
Reference rs104894817(T;T)
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.70443646T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011181.3,