Rs104894825

From SNPedia
Jump to: navigation, search

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894825(G;G)
Make rs104894825(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71224411
GeneGJB1
is asnp
is mentioned by
dbSNPrs104894825
Exacrs104894825
PheGenIrs104894825
nextbiors104894825
hapmaprs104894825
1000 genomesrs104894825
hgdprs104894825
ensemblrs104894825
gopubmedrs104894825
geneviewrs104894825
scholarrs104894825
googlers104894825
pharmgkbrs104894825
gwascentralrs104894825
openSNPrs104894825
23andMers104894825
23andMe allrs104894825
SNP Nexus

SNPshotrs104894825
SNPdbers104894825
MSV3drs104894825
GMAF0.001814
Max Magnitude0
OMIM304040
Desc
Variant0020
Relatedalso
ClinVar
Risk rs104894825(G;G)
Alt rs104894825(G;G)
Reference rs104894825(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.70444261T>G
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000011195.4,