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rs398123980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123980(C;T)
Make rs398123980(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32364602
GeneDMD
is asnp
is mentioned by
dbSNPrs398123980
dbSNP (classic)rs398123980
ClinGenrs398123980
ebirs398123980
HLIrs398123980
Exacrs398123980
Gnomadrs398123980
Varsomers398123980
LitVarrs398123980
Maprs398123980
PheGenIrs398123980
Biobankrs398123980
1000 genomesrs398123980
hgdprs398123980
ensemblrs398123980
geneviewrs398123980
scholarrs398123980
googlers398123980
pharmgkbrs398123980
gwascentralrs398123980
openSNPrs398123980
23andMers398123980
SNPshotrs398123980
SNPdbers398123980
MSV3drs398123980
GWAS Ctlgrs398123980
Max Magnitude0
ClinVar
Risk rs398123980(T;T)
Alt rs398123980(T;T)
Reference Rs398123980(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B
Reversed 1
HGVS NC_000023.10:g.32382719G>A
CLNSRC HGMD
CLNACC RCV000080644.3,