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rs128626254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128626254(A;A)
Make rs128626254(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position31323625
GeneDMD
is asnp
is mentioned by
dbSNPrs128626254
dbSNP (classic)rs128626254
ClinGenrs128626254
ebirs128626254
HLIrs128626254
Exacrs128626254
Gnomadrs128626254
Varsomers128626254
LitVarrs128626254
Maprs128626254
PheGenIrs128626254
Biobankrs128626254
1000 genomesrs128626254
hgdprs128626254
ensemblrs128626254
geneviewrs128626254
scholarrs128626254
googlers128626254
pharmgkbrs128626254
gwascentralrs128626254
openSNPrs128626254
23andMers128626254
SNPshotrs128626254
SNPdbers128626254
MSV3drs128626254
GWAS Ctlgrs128626254
Max Magnitude0
OMIM300377
Desc
Variant0064
Relatedalso
ClinVar
Risk rs128626254(A;A)
Alt rs128626254(A;A)
Reference Rs128626254(C;C)
Significance Pathogenic
Disease Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.31341742G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012021.9,