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rs128626242

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs128626242(A;A)
Make rs128626242(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32565742
GeneDMD
is asnp
is mentioned by
dbSNPrs128626242
dbSNP (classic)rs128626242
ClinGenrs128626242
ebirs128626242
HLIrs128626242
Exacrs128626242
Gnomadrs128626242
Varsomers128626242
LitVarrs128626242
Maprs128626242
PheGenIrs128626242
Biobankrs128626242
1000 genomesrs128626242
hgdprs128626242
ensemblrs128626242
geneviewrs128626242
scholarrs128626242
googlers128626242
pharmgkbrs128626242
gwascentralrs128626242
openSNPrs128626242
23andMers128626242
SNPshotrs128626242
SNPdbers128626242
MSV3drs128626242
GWAS Ctlgrs128626242
Max Magnitude0
OMIM300377
Desc
Variant0043
Relatedalso
ClinVar
Risk rs128626242(A;A) rs128626242(C;C)
Alt rs128626242(A;A) rs128626242(C;C)
Reference Rs128626242(G;G)
Significance Pathogenic
Disease Duchenne muscular dystrophy Dilated cardiomyopathy 3B
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy Dilated cardiomyopathy 3B
Reversed 1
HGVS NC_000023.10:g.32583859C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011996.3, RCV000150070.2,