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rs104894813

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Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894813(C;C)
Make rs104894813(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71224104
GeneGJB1
is asnp
is mentioned by
dbSNPrs104894813
ebirs104894813
HLIrs104894813
Exacrs104894813
Varsomers104894813
Maprs104894813
PheGenIrs104894813
hapmaprs104894813
1000 genomesrs104894813
hgdprs104894813
ensemblrs104894813
gopubmedrs104894813
geneviewrs104894813
scholarrs104894813
googlers104894813
pharmgkbrs104894813
gwascentralrs104894813
openSNPrs104894813
23andMers104894813
23andMe allrs104894813
SNP Nexus

SNPshotrs104894813
SNPdbers104894813
MSV3drs104894813
GWAS Ctlgrs104894813
Max Magnitude0
OMIM304040
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894813(C;C)
Alt rs104894813(C;C)
Reference rs104894813(T;T)
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.70443954T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011179.2,