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rs104894797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.2 Dilated cardiomyopathy
(T;T) 6.2 Dilated cardiomyopathy
ReferenceGRCh38 38.1/141
ChromosomeX
Position31206663
GeneDMD
is asnp
is mentioned by
dbSNPrs104894797
dbSNP (classic)rs104894797
ClinGenrs104894797
ebirs104894797
HLIrs104894797
Exacrs104894797
Gnomadrs104894797
Varsomers104894797
LitVarrs104894797
Maprs104894797
PheGenIrs104894797
Biobankrs104894797
1000 genomesrs104894797
hgdprs104894797
ensemblrs104894797
geneviewrs104894797
scholarrs104894797
googlers104894797
pharmgkbrs104894797
gwascentralrs104894797
openSNPrs104894797
23andMers104894797
SNPshotrs104894797
SNPdbers104894797
MSV3drs104894797
GWAS Ctlgrs104894797
Max Magnitude6.2
OMIM300377
Desc
Variant0076
Relatedalso
ClinVar
Risk Rs104894797(T;T)
Alt Rs104894797(T;T)
Reference Rs104894797(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.31224780G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012033.19, RCV000150055.4, RCV000179664.1,