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rs398123954

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123954(C;T)
Make rs398123954(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32389614
GeneDMD
is asnp
is mentioned by
dbSNPrs398123954
dbSNP (classic)rs398123954
ClinGenrs398123954
ebirs398123954
HLIrs398123954
Exacrs398123954
Gnomadrs398123954
Varsomers398123954
LitVarrs398123954
Maprs398123954
PheGenIrs398123954
Biobankrs398123954
1000 genomesrs398123954
hgdprs398123954
ensemblrs398123954
geneviewrs398123954
scholarrs398123954
googlers398123954
pharmgkbrs398123954
gwascentralrs398123954
openSNPrs398123954
23andMers398123954
SNPshotrs398123954
SNPdbers398123954
MSV3drs398123954
GWAS Ctlgrs398123954
Max Magnitude0
ClinVar
Risk rs398123954(T;T)
Alt rs398123954(T;T)
Reference Rs398123954(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B
Reversed 1
HGVS NC_000023.10:g.32407731G>A
CLNSRC HGMD
CLNACC RCV000080614.3,