Rs104894820

From SNPedia
Jump to: navigation, search

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894820(G;T)
Make rs104894820(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71223744
GeneGJB1
is asnp
is mentioned by
dbSNPrs104894820
Exacrs104894820
PheGenIrs104894820
nextbiors104894820
hapmaprs104894820
1000 genomesrs104894820
hgdprs104894820
ensemblrs104894820
gopubmedrs104894820
geneviewrs104894820
scholarrs104894820
googlers104894820
pharmgkbrs104894820
gwascentralrs104894820
openSNPrs104894820
23andMers104894820
23andMe allrs104894820
SNP Nexus

SNPshotrs104894820
SNPdbers104894820
MSV3drs104894820
Max Magnitude0
OMIM304040
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894820(T;T)
Alt rs104894820(T;T)
Reference rs104894820(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.70443594G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011184.4,