Rs104894814

From SNPedia
Jump to: navigation, search

Orientationplus
is asnp
is mentioned by
dbSNPrs104894814
PheGenIrs104894814
nextbiors104894814
hapmaprs104894814
1000 genomesrs104894814
hgdprs104894814
ensemblrs104894814
gopubmedrs104894814
geneviewrs104894814
scholarrs104894814
googlers104894814
pharmgkbrs104894814
gwascentralrs104894814
openSNPrs104894814
23andMers104894814
23andMe allrs104894814
SNP Nexus

SNPshotrs104894814
SNPdbers104894814
MSV3drs104894814
GeneGJB1
ChromosomeX
Orientationplus
Position71224365
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894814(C;T)
Make rs104894814(T;T)
OMIM304040
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894814(T;T)
Alt rs104894814(T;T)
Reference rs104894814(C;C)
Significance 5
Disease X-linked hereditary motor and sensory neuropathy
ClinVar info
Gene GJB1
CLNDBN X-linked hereditary motor and sensory neuropathy
Reversed 0
CLNHGVS NC_000023.10:g.70444215C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011180.4