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rs398123919

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123919(C;G)
Make rs398123919(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32468601
GeneDMD
is asnp
is mentioned by
dbSNPrs398123919
dbSNP (classic)rs398123919
ClinGenrs398123919
ebirs398123919
HLIrs398123919
Exacrs398123919
Gnomadrs398123919
Varsomers398123919
LitVarrs398123919
Maprs398123919
PheGenIrs398123919
Biobankrs398123919
1000 genomesrs398123919
hgdprs398123919
ensemblrs398123919
geneviewrs398123919
scholarrs398123919
googlers398123919
pharmgkbrs398123919
gwascentralrs398123919
openSNPrs398123919
23andMers398123919
SNPshotrs398123919
SNPdbers398123919
MSV3drs398123919
GWAS Ctlgrs398123919
Max Magnitude0
ClinVar
Risk rs398123919(G;G)
Alt rs398123919(G;G)
Reference Rs398123919(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B
Reversed 1
HGVS NC_000023.10:g.32486718G>C
CLNSRC ClinVar Emory University
CLNACC RCV000080538.3,