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rs128626245

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128626245(C;T)
Make rs128626245(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32468539
GeneDMD
is asnp
is mentioned by
dbSNPrs128626245
ebirs128626245
HLIrs128626245
Exacrs128626245
Varsomers128626245
Maprs128626245
PheGenIrs128626245
hapmaprs128626245
1000 genomesrs128626245
hgdprs128626245
ensemblrs128626245
gopubmedrs128626245
geneviewrs128626245
scholarrs128626245
googlers128626245
pharmgkbrs128626245
gwascentralrs128626245
openSNPrs128626245
23andMers128626245
23andMe allrs128626245
SNP Nexus

SNPshotrs128626245
SNPdbers128626245
MSV3drs128626245
GWAS Ctlgrs128626245
Max Magnitude0
OMIM300377
Desc
Variant0048
Relatedalso
ClinVar
Risk rs128626245(T;T)
Alt rs128626245(T;T)
Reference rs128626245(C;C)
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.32486656G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012005.18, RCV000150068.2,