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rs104894787

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894787(C;T)
Make rs104894787(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position31178784
GeneDMD
is asnp
is mentioned by
dbSNPrs104894787
dbSNP (classic)rs104894787
ClinGenrs104894787
ebirs104894787
HLIrs104894787
Exacrs104894787
Gnomadrs104894787
Varsomers104894787
LitVarrs104894787
Maprs104894787
PheGenIrs104894787
Biobankrs104894787
1000 genomesrs104894787
hgdprs104894787
ensemblrs104894787
geneviewrs104894787
scholarrs104894787
googlers104894787
pharmgkbrs104894787
gwascentralrs104894787
openSNPrs104894787
23andMers104894787
SNPshotrs104894787
SNPdbers104894787
MSV3drs104894787
GWAS Ctlgrs104894787
Max Magnitude0
OMIM300377
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894787(T;T)
Alt rs104894787(T;T)
Reference Rs104894787(C;C)
Significance Pathogenic
Disease Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.31196901G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011964.14, RCV000150054.4, RCV000180033.2,