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rs128626241

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128626241(C;T)
Make rs128626241(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32595870
GeneDMD
is asnp
is mentioned by
dbSNPrs128626241
dbSNP (classic)rs128626241
ClinGenrs128626241
ebirs128626241
HLIrs128626241
Exacrs128626241
Gnomadrs128626241
Varsomers128626241
LitVarrs128626241
Maprs128626241
PheGenIrs128626241
Biobankrs128626241
1000 genomesrs128626241
hgdprs128626241
ensemblrs128626241
geneviewrs128626241
scholarrs128626241
googlers128626241
pharmgkbrs128626241
gwascentralrs128626241
openSNPrs128626241
23andMers128626241
SNPshotrs128626241
SNPdbers128626241
MSV3drs128626241
GWAS Ctlgrs128626241
Max Magnitude0
OMIM300377
Desc
Variant0041
Relatedalso
ClinVar
Risk rs128626241(T;T)
Alt rs128626241(T;T)
Reference Rs128626241(C;C)
Significance Pathogenic
Disease Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32613987G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011999.19,