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rs794726993

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.p2 38.2/147
ChromosomeX
Position32645020
GeneDMD
is asnp
is mentioned by
dbSNPrs794726993
dbSNP (classic)rs794726993
ClinGenrs794726993
ebirs794726993
HLIrs794726993
Exacrs794726993
Gnomadrs794726993
Varsomers794726993
LitVarrs794726993
Maprs794726993
PheGenIrs794726993
Biobankrs794726993
1000 genomesrs794726993
hgdprs794726993
ensemblrs794726993
geneviewrs794726993
scholarrs794726993
googlers794726993
pharmgkbrs794726993
gwascentralrs794726993
openSNPrs794726993
23andMers794726993
SNPshotrs794726993
SNPdbers794726993
MSV3drs794726993
GWAS Ctlgrs794726993
Max Magnitude6.2
ClinVar
Risk Rs794726993(T;T)
Alt Rs794726993(T;T)
Reference Rs794726993(C;C)
Significance Pathogenic
Disease Duchenne muscular dystrophy Becker muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy Becker muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32663137G>A
CLNSRC
CLNACC RCV000173785.2, RCV000173786.2,