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rs128626247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128626247(C;T)
Make rs128626247(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32411772
GeneDMD
is asnp
is mentioned by
dbSNPrs128626247
ebirs128626247
HLIrs128626247
Exacrs128626247
Varsomers128626247
Maprs128626247
PheGenIrs128626247
hapmaprs128626247
1000 genomesrs128626247
hgdprs128626247
ensemblrs128626247
gopubmedrs128626247
geneviewrs128626247
scholarrs128626247
googlers128626247
pharmgkbrs128626247
gwascentralrs128626247
openSNPrs128626247
23andMers128626247
23andMe allrs128626247
SNP Nexus

SNPshotrs128626247
SNPdbers128626247
MSV3drs128626247
GWAS Ctlgrs128626247
Max Magnitude0
OMIM300377
Desc
Variant0050
Relatedalso
ClinVar
Risk rs128626247(T;T)
Alt rs128626247(T;T)
Reference rs128626247(C;C)
Significance Pathogenic
Disease Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32429889G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012007.17,