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rs398123923

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.2 Dilated cardiomyopathy
(T;T) 6.2 Dilated cardiomyopathy
ReferenceGRCh38 38.1/141
ChromosomeX
Position33211281
GeneDMD
is asnp
is mentioned by
dbSNPrs398123923
dbSNP (classic)rs398123923
ClinGenrs398123923
ebirs398123923
HLIrs398123923
Exacrs398123923
Gnomadrs398123923
Varsomers398123923
LitVarrs398123923
Maprs398123923
PheGenIrs398123923
Biobankrs398123923
1000 genomesrs398123923
hgdprs398123923
ensemblrs398123923
geneviewrs398123923
scholarrs398123923
googlers398123923
pharmgkbrs398123923
gwascentralrs398123923
openSNPrs398123923
23andMers398123923
SNPshotrs398123923
SNPdbers398123923
MSV3drs398123923
GWAS Ctlgrs398123923
Max Magnitude6.2
ClinVar
Risk Rs398123923(T;T)
Alt Rs398123923(T;T)
Reference Rs398123923(G;G)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy not provided
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy not provided
Reversed 1
HGVS NC_000023.10:g.33229398C>A
CLNSRC HGMD
CLNACC RCV000080542.5, RCV000173323.1, RCV000173324.1, RCV000183396.1,