Rs104894821

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894821(A;A)
Make rs104894821(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71223990
GeneGJB1
is asnp
is mentioned by
dbSNPrs104894821
Exacrs104894821
PheGenIrs104894821
nextbiors104894821
hapmaprs104894821
1000 genomesrs104894821
hgdprs104894821
ensemblrs104894821
gopubmedrs104894821
geneviewrs104894821
scholarrs104894821
googlers104894821
pharmgkbrs104894821
gwascentralrs104894821
openSNPrs104894821
23andMers104894821
23andMe allrs104894821
SNP Nexus

SNPshotrs104894821
SNPdbers104894821
MSV3drs104894821
Max Magnitude0
OMIM304040
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894821(A;A)
Alt rs104894821(A;A)
Reference rs104894821(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.70443840G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011186.1,