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rs128626252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128626252(C;T)
Make rs128626252(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position31929718
GeneDMD
is asnp
is mentioned by
dbSNPrs128626252
ebirs128626252
HLIrs128626252
Exacrs128626252
Varsomers128626252
Maprs128626252
PheGenIrs128626252
hapmaprs128626252
1000 genomesrs128626252
hgdprs128626252
ensemblrs128626252
gopubmedrs128626252
geneviewrs128626252
scholarrs128626252
googlers128626252
pharmgkbrs128626252
gwascentralrs128626252
openSNPrs128626252
23andMers128626252
23andMe allrs128626252
SNP Nexus

SNPshotrs128626252
SNPdbers128626252
MSV3drs128626252
GWAS Ctlgrs128626252
Max Magnitude0
OMIM300377
Desc
Variant0057
Relatedalso
ClinVar
Risk rs128626252(T;T)
Alt rs128626252(T;T)
Reference rs128626252(C;C)
Significance Pathogenic
Disease Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.31947835G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012014.2,