Rs104894819

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Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894819(A;G)
Make rs104894819(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71223901
GeneGJB1
is asnp
is mentioned by
dbSNPrs104894819
PheGenIrs104894819
nextbiors104894819
hapmaprs104894819
1000 genomesrs104894819
hgdprs104894819
ensemblrs104894819
gopubmedrs104894819
geneviewrs104894819
scholarrs104894819
googlers104894819
pharmgkbrs104894819
gwascentralrs104894819
openSNPrs104894819
23andMers104894819
23andMe allrs104894819
SNP Nexus

SNPshotrs104894819
SNPdbers104894819
MSV3drs104894819
Max Magnitude0
OMIM304040
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894819(G;G)
Alt rs104894819(G;G)
Reference rs104894819(A;A)
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.70443751A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011183.1,