Rs104894805

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894805(A;A)
Make rs104894805(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154380980
GeneEMD
is asnp
is mentioned by
dbSNPrs104894805
Exacrs104894805
PheGenIrs104894805
nextbiors104894805
hapmaprs104894805
1000 genomesrs104894805
hgdprs104894805
ensemblrs104894805
gopubmedrs104894805
geneviewrs104894805
scholarrs104894805
googlers104894805
pharmgkbrs104894805
gwascentralrs104894805
openSNPrs104894805
23andMers104894805
23andMe allrs104894805
SNP Nexus

SNPshotrs104894805
SNPdbers104894805
MSV3drs104894805
Max Magnitude0
OMIM300384
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894805(A;A)
Alt rs104894805(A;A)
Reference rs104894805(C;C)
Significance Pathogenic
Disease Emery-Dreifuss muscular dystrophy
Variation info
Gene EMD
CLNDBN Emery-Dreifuss muscular dystrophy, X-linked
Reversed 0
HGVS NC_000023.10:g.153609340C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011928.16,