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rs128625229

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128625229(C;T)
Make rs128625229(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position31444621
GeneDMD
is asnp
is mentioned by
dbSNPrs128625229
dbSNP (classic)rs128625229
ClinGenrs128625229
ebirs128625229
HLIrs128625229
Exacrs128625229
Gnomadrs128625229
Varsomers128625229
LitVarrs128625229
Maprs128625229
PheGenIrs128625229
Biobankrs128625229
1000 genomesrs128625229
hgdprs128625229
ensemblrs128625229
geneviewrs128625229
scholarrs128625229
googlers128625229
pharmgkbrs128625229
gwascentralrs128625229
openSNPrs128625229
23andMers128625229
SNPshotrs128625229
SNPdbers128625229
MSV3drs128625229
GWAS Ctlgrs128625229
Max Magnitude0
OMIM300377
Desc
Variant0005
Relatedalso
ClinVar
Risk rs128625229(T;T)
Alt rs128625229(T;T)
Reference Rs128625229(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.31462738G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011962.19, RCV000150056.3, RCV000302497.1,