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rs128626248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128626248(C;T)
Make rs128626248(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32389605
GeneDMD
is asnp
is mentioned by
dbSNPrs128626248
ebirs128626248
HLIrs128626248
Exacrs128626248
Varsomers128626248
Maprs128626248
PheGenIrs128626248
hapmaprs128626248
1000 genomesrs128626248
hgdprs128626248
ensemblrs128626248
gopubmedrs128626248
geneviewrs128626248
scholarrs128626248
googlers128626248
pharmgkbrs128626248
gwascentralrs128626248
openSNPrs128626248
23andMers128626248
23andMe allrs128626248
SNP Nexus

SNPshotrs128626248
SNPdbers128626248
MSV3drs128626248
GWAS Ctlgrs128626248
Max Magnitude0
OMIM300377
Desc
Variant0051
Relatedalso
ClinVar
Risk rs128626248(T;T)
Alt rs128626248(T;T)
Reference rs128626248(C;C)
Significance Pathogenic
Disease Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32407722G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012008.5,