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rs128626250

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128626250(C;T)
Make rs128626250(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32217062
GeneDMD
is asnp
is mentioned by
dbSNPrs128626250
ebirs128626250
HLIrs128626250
Exacrs128626250
Varsomers128626250
Maprs128626250
PheGenIrs128626250
hapmaprs128626250
1000 genomesrs128626250
hgdprs128626250
ensemblrs128626250
gopubmedrs128626250
geneviewrs128626250
scholarrs128626250
googlers128626250
pharmgkbrs128626250
gwascentralrs128626250
openSNPrs128626250
23andMers128626250
23andMe allrs128626250
SNP Nexus

SNPshotrs128626250
SNPdbers128626250
MSV3drs128626250
GWAS Ctlgrs128626250
Max Magnitude0
OMIM300377
Desc
Variant0054
Relatedalso
ClinVar
Risk rs128626250(T;T)
Alt rs128626250(T;T)
Reference rs128626250(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.32235179G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012011.19, RCV000150065.2,