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rs398123943

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs398123943(-;A)
Make rs398123943(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32448602
GeneDMD
is asnp
is mentioned by
dbSNPrs398123943
dbSNP (classic)rs398123943
ClinGenrs398123943
ebirs398123943
HLIrs398123943
Exacrs398123943
Gnomadrs398123943
Varsomers398123943
LitVarrs398123943
Maprs398123943
PheGenIrs398123943
Biobankrs398123943
1000 genomesrs398123943
hgdprs398123943
ensemblrs398123943
geneviewrs398123943
scholarrs398123943
googlers398123943
pharmgkbrs398123943
gwascentralrs398123943
openSNPrs398123943
23andMers398123943
SNPshotrs398123943
SNPdbers398123943
MSV3drs398123943
GWAS Ctlgrs398123943
Max Magnitude0
ClinVar
Risk rs398123943(A;A)
Alt rs398123943(A;A)
Reference Rs398123943(-;-)
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.32466720dupT
CLNSRC ClinVar
CLNACC RCV000080590.3, RCV000176741.1, RCV000176742.1,