Rs104894812

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894812(A;A)
Make rs104894812(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71224122
GeneGJB1
is asnp
is mentioned by
dbSNPrs104894812
Exacrs104894812
PheGenIrs104894812
nextbiors104894812
hapmaprs104894812
1000 genomesrs104894812
hgdprs104894812
ensemblrs104894812
gopubmedrs104894812
geneviewrs104894812
scholarrs104894812
googlers104894812
pharmgkbrs104894812
gwascentralrs104894812
openSNPrs104894812
23andMers104894812
23andMe allrs104894812
SNP Nexus

SNPshotrs104894812
SNPdbers104894812
MSV3drs104894812
Max Magnitude0
OMIM304040
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894812(A;A)
Alt rs104894812(A;A)
Reference rs104894812(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.70443972G>A
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000011178.3,