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rs398123962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAAGT;GAAGT) 0 common in clinvar
Make rs398123962(-;-)
Make rs398123962(-;GAAGT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32386435
GeneDMD
is asnp
is mentioned by
dbSNPrs398123962
dbSNP (classic)rs398123962
ClinGenrs398123962
ebirs398123962
HLIrs398123962
Exacrs398123962
Gnomadrs398123962
Varsomers398123962
LitVarrs398123962
Maprs398123962
PheGenIrs398123962
Biobankrs398123962
1000 genomesrs398123962
hgdprs398123962
ensemblrs398123962
geneviewrs398123962
scholarrs398123962
googlers398123962
pharmgkbrs398123962
gwascentralrs398123962
openSNPrs398123962
23andMers398123962
SNPshotrs398123962
SNPdbers398123962
MSV3drs398123962
GWAS Ctlgrs398123962
Max Magnitude0
ClinVar
Risk rs398123962(-;-)
Alt rs398123962(-;-)
Reference Rs398123962(GAAGT;GAAGT)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy not provided
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy not provided
Reversed 1
HGVS NC_000023.10:g.32404552_32404556delACTTC
CLNSRC HGMD
CLNACC RCV000080624.4, RCV000177743.1, RCV000177744.1, RCV000493588.1,