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rs128626243

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs128626243(A;T)
Make rs128626243(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32501827
GeneDMD
is asnp
is mentioned by
dbSNPrs128626243
dbSNP (classic)rs128626243
ClinGenrs128626243
ebirs128626243
HLIrs128626243
Exacrs128626243
Gnomadrs128626243
Varsomers128626243
LitVarrs128626243
Maprs128626243
PheGenIrs128626243
Biobankrs128626243
1000 genomesrs128626243
hgdprs128626243
ensemblrs128626243
geneviewrs128626243
scholarrs128626243
googlers128626243
pharmgkbrs128626243
gwascentralrs128626243
openSNPrs128626243
23andMers128626243
SNPshotrs128626243
SNPdbers128626243
MSV3drs128626243
GWAS Ctlgrs128626243
Max Magnitude0
OMIM300377
Desc
Variant0044
Relatedalso
ClinVar
Risk rs128626243(T;T)
Alt rs128626243(T;T)
Reference Rs128626243(A;A)
Significance Pathogenic
Disease Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32519944T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012001.2,