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rs104894818

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Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894818(G;G)
Make rs104894818(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71224174
GeneGJB1
is asnp
is mentioned by
dbSNPrs104894818
ebirs104894818
HLIrs104894818
Exacrs104894818
Varsomers104894818
Maprs104894818
PheGenIrs104894818
hapmaprs104894818
1000 genomesrs104894818
hgdprs104894818
ensemblrs104894818
gopubmedrs104894818
geneviewrs104894818
scholarrs104894818
googlers104894818
pharmgkbrs104894818
gwascentralrs104894818
openSNPrs104894818
23andMers104894818
23andMe allrs104894818
SNP Nexus

SNPshotrs104894818
SNPdbers104894818
MSV3drs104894818
GWAS Ctlgrs104894818
Max Magnitude0
OMIM304040
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894818(G;G)
Alt rs104894818(G;G)
Reference rs104894818(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.70444024T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011182.4,