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rs398123949

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs398123949(-;-)
Make rs398123949(-;AA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32816585
GeneDMD
is asnp
is mentioned by
dbSNPrs398123949
dbSNP (classic)rs398123949
ClinGenrs398123949
ebirs398123949
HLIrs398123949
Exacrs398123949
Gnomadrs398123949
Varsomers398123949
LitVarrs398123949
Maprs398123949
PheGenIrs398123949
Biobankrs398123949
1000 genomesrs398123949
hgdprs398123949
ensemblrs398123949
geneviewrs398123949
scholarrs398123949
googlers398123949
pharmgkbrs398123949
gwascentralrs398123949
openSNPrs398123949
23andMers398123949
SNPshotrs398123949
SNPdbers398123949
MSV3drs398123949
GWAS Ctlgrs398123949
Max Magnitude0
ClinVar
Risk rs398123949(-;-)
Alt rs398123949(-;-)
Reference Rs398123949(AA;AA)
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.32834702_32834703delTT
CLNSRC ClinVar
CLNACC RCV000080603.4, RCV000179428.1, RCV000179429.1,