Rs104894822

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Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894822(A;G)
Make rs104894822(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71224321
GeneGJB1
is asnp
is mentioned by
dbSNPrs104894822
Exacrs104894822
PheGenIrs104894822
nextbiors104894822
hapmaprs104894822
1000 genomesrs104894822
hgdprs104894822
ensemblrs104894822
gopubmedrs104894822
geneviewrs104894822
scholarrs104894822
googlers104894822
pharmgkbrs104894822
gwascentralrs104894822
openSNPrs104894822
23andMers104894822
23andMe allrs104894822
SNP Nexus

SNPshotrs104894822
SNPdbers104894822
MSV3drs104894822
OMIM304040
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894822(G;G)
Alt rs104894822(G;G)
Reference rs104894822(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.70444171A>G
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000011187.1,