Rs104894811

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894811(C;T)
Make rs104894811(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71224221
GeneGJB1
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
Max Magnitude0
OMIM304040
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894811(T;T)
Alt rs104894811(T;T)
Reference rs104894811(C;C)
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.70444071C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011177.2,