Rs104894823

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894823(C;G)
Make rs104894823(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71223961
GeneGJB1
is asnp
is mentioned by
dbSNPrs104894823
Exacrs104894823
PheGenIrs104894823
nextbiors104894823
hapmaprs104894823
1000 genomesrs104894823
hgdprs104894823
ensemblrs104894823
gopubmedrs104894823
geneviewrs104894823
scholarrs104894823
googlers104894823
pharmgkbrs104894823
gwascentralrs104894823
openSNPrs104894823
23andMers104894823
23andMe allrs104894823
SNP Nexus

SNPshotrs104894823
SNPdbers104894823
MSV3drs104894823
OMIM304040
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104894823(G;G)
Alt rs104894823(G;G)
Reference rs104894823(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.70443811C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011189.3,