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rs794727357

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794727357(A;T)
Make rs794727357(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position32472311
GeneDMD
is asnp
is mentioned by
dbSNPrs794727357
dbSNP (classic)rs794727357
ClinGenrs794727357
ebirs794727357
HLIrs794727357
Exacrs794727357
Gnomadrs794727357
Varsomers794727357
LitVarrs794727357
Maprs794727357
PheGenIrs794727357
Biobankrs794727357
1000 genomesrs794727357
hgdprs794727357
ensemblrs794727357
geneviewrs794727357
scholarrs794727357
googlers794727357
pharmgkbrs794727357
gwascentralrs794727357
openSNPrs794727357
23andMers794727357
SNPshotrs794727357
SNPdbers794727357
MSV3drs794727357
GWAS Ctlgrs794727357
Max Magnitude0
ClinVar
Risk rs794727357(C;C) rs794727357(T;T)
Alt rs794727357(C;C) rs794727357(T;T)
Reference Rs794727357(A;A)
Significance Pathogenic
Disease Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32490428T>A; NC_000023.10:g.32490428T>G
CLNSRC Quest Diagnostics
CLNACC RCV000176296.1, RCV000176297.1, RCV000176298.1, RCV000201191.1,