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rs398123991

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123991(C;T)
Make rs398123991(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32345975
GeneDMD
is asnp
is mentioned by
dbSNPrs398123991
dbSNP (classic)rs398123991
ClinGenrs398123991
ebirs398123991
HLIrs398123991
Exacrs398123991
Gnomadrs398123991
Varsomers398123991
LitVarrs398123991
Maprs398123991
PheGenIrs398123991
Biobankrs398123991
1000 genomesrs398123991
hgdprs398123991
ensemblrs398123991
geneviewrs398123991
scholarrs398123991
googlers398123991
pharmgkbrs398123991
gwascentralrs398123991
openSNPrs398123991
23andMers398123991
SNPshotrs398123991
SNPdbers398123991
MSV3drs398123991
GWAS Ctlgrs398123991
Max Magnitude0
ClinVar
Risk rs398123991(T;T)
Alt rs398123991(T;T)
Reference Rs398123991(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B
Reversed 1
HGVS NC_000023.10:g.32364092G>A
CLNSRC HGMD
CLNACC RCV000080660.3,