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rs128626249

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128626249(C;T)
Make rs128626249(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32342123
GeneDMD
is asnp
is mentioned by
dbSNPrs128626249
dbSNP (classic)rs128626249
ClinGenrs128626249
ebirs128626249
HLIrs128626249
Exacrs128626249
Gnomadrs128626249
Varsomers128626249
LitVarrs128626249
Maprs128626249
PheGenIrs128626249
Biobankrs128626249
1000 genomesrs128626249
hgdprs128626249
ensemblrs128626249
geneviewrs128626249
scholarrs128626249
googlers128626249
pharmgkbrs128626249
gwascentralrs128626249
openSNPrs128626249
23andMers128626249
SNPshotrs128626249
SNPdbers128626249
MSV3drs128626249
GWAS Ctlgrs128626249
Max Magnitude0
OMIM300377
Desc
Variant0052
Relatedalso
ClinVar
Risk rs128626249(T;T)
Alt rs128626249(T;T)
Reference Rs128626249(C;C)
Significance Pathogenic
Disease Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32360240G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012009.13, RCV000150066.3, RCV000325394.1,