Rs104894811

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Orientationplus
is asnp
is mentioned by
dbSNPrs104894811
PheGenIrs104894811
nextbiors104894811
hapmaprs104894811
1000 genomesrs104894811
hgdprs104894811
ensemblrs104894811
gopubmedrs104894811
geneviewrs104894811
scholarrs104894811
googlers104894811
pharmgkbrs104894811
gwascentralrs104894811
openSNPrs104894811
23andMers104894811
23andMe allrs104894811
SNP Nexus

SNPshotrs104894811
SNPdbers104894811
MSV3drs104894811
GeneGJB1
ChromosomeX
Orientationplus
Position70444071
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894811(C;T)
Make rs104894811(T;T)
OMIM304040
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894811(T;T)
Alt rs104894811(T;T)
Reference rs104894811(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.70444071C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011177.2