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rs398123979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAAA;GAAA) 0 common in clinvar
Make rs398123979(-;-)
Make rs398123979(-;GAAA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32364609
GeneDMD
is asnp
is mentioned by
dbSNPrs398123979
dbSNP (classic)rs398123979
ClinGenrs398123979
ebirs398123979
HLIrs398123979
Exacrs398123979
Gnomadrs398123979
Varsomers398123979
LitVarrs398123979
Maprs398123979
PheGenIrs398123979
Biobankrs398123979
1000 genomesrs398123979
hgdprs398123979
ensemblrs398123979
geneviewrs398123979
scholarrs398123979
googlers398123979
pharmgkbrs398123979
gwascentralrs398123979
openSNPrs398123979
23andMers398123979
SNPshotrs398123979
SNPdbers398123979
MSV3drs398123979
GWAS Ctlgrs398123979
Max Magnitude0
ClinVar
Risk rs398123979(-;-)
Alt rs398123979(-;-)
Reference Rs398123979(GAAA;GAAA)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32382726_32382729delTTTC
CLNSRC ClinVar
CLNACC RCV000080643.4, RCV000177875.1, RCV000177876.1,