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rs398123950

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs398123950(-;-)
Make rs398123950(-;AA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32390100
GeneDMD
is asnp
is mentioned by
dbSNPrs398123950
dbSNP (classic)rs398123950
ClinGenrs398123950
ebirs398123950
HLIrs398123950
Exacrs398123950
Gnomadrs398123950
Varsomers398123950
LitVarrs398123950
Maprs398123950
PheGenIrs398123950
Biobankrs398123950
1000 genomesrs398123950
hgdprs398123950
ensemblrs398123950
geneviewrs398123950
scholarrs398123950
googlers398123950
pharmgkbrs398123950
gwascentralrs398123950
openSNPrs398123950
23andMers398123950
SNPshotrs398123950
SNPdbers398123950
MSV3drs398123950
GWAS Ctlgrs398123950
Max Magnitude0
ClinVar
Risk rs398123950(-;-)
Alt rs398123950(-;-)
Reference Rs398123950(AA;AA)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B
Reversed 1
HGVS NC_000023.10:g.32408217_32408218delTT
CLNSRC ClinVar
CLNACC RCV000080608.3,