Rs104894824

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894824(C;T)
Make rs104894824(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71223871
GeneGJB1
is asnp
is mentioned by
dbSNPrs104894824
PheGenIrs104894824
nextbiors104894824
hapmaprs104894824
1000 genomesrs104894824
hgdprs104894824
ensemblrs104894824
gopubmedrs104894824
geneviewrs104894824
scholarrs104894824
googlers104894824
pharmgkbrs104894824
gwascentralrs104894824
openSNPrs104894824
23andMers104894824
23andMe allrs104894824
SNP Nexus

SNPshotrs104894824
SNPdbers104894824
MSV3drs104894824
Max Magnitude0
OMIM304040
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894824(T;T)
Alt rs104894824(T;T)
Reference rs104894824(C;C)
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.70443721C>T
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000011191.1,