Rs104894806

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894806(A;A)
Make rs104894806(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154380979
GeneEMD
is asnp
is mentioned by
dbSNPrs104894806
Exacrs104894806
PheGenIrs104894806
nextbiors104894806
hapmaprs104894806
1000 genomesrs104894806
hgdprs104894806
ensemblrs104894806
gopubmedrs104894806
geneviewrs104894806
scholarrs104894806
googlers104894806
pharmgkbrs104894806
gwascentralrs104894806
openSNPrs104894806
23andMers104894806
23andMe allrs104894806
SNP Nexus

SNPshotrs104894806
SNPdbers104894806
MSV3drs104894806
Max Magnitude0
OMIM300384
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894806(A;A)
Alt rs104894806(A;A)
Reference rs104894806(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.153609339C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011929.4,