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rs398123838

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs398123838(-;-)
Make rs398123838(-;CT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position31169542
GeneDMD
is asnp
is mentioned by
dbSNPrs398123838
dbSNP (classic)rs398123838
ClinGenrs398123838
ebirs398123838
HLIrs398123838
Exacrs398123838
Gnomadrs398123838
Varsomers398123838
LitVarrs398123838
Maprs398123838
PheGenIrs398123838
Biobankrs398123838
1000 genomesrs398123838
hgdprs398123838
ensemblrs398123838
geneviewrs398123838
scholarrs398123838
googlers398123838
pharmgkbrs398123838
gwascentralrs398123838
openSNPrs398123838
23andMers398123838
SNPshotrs398123838
SNPdbers398123838
MSV3drs398123838
GWAS Ctlgrs398123838
Max Magnitude0
ClinVar
Risk rs398123838(-;-)
Alt rs398123838(-;-)
Reference Rs398123838(CT;CT)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B
Reversed 1
HGVS NC_000023.10:g.31187659_31187660delAG
CLNSRC HGMD
CLNACC RCV000080420.3,