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rs128626244

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs128626244(A;G)
Make rs128626244(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32501818
GeneDMD
is asnp
is mentioned by
dbSNPrs128626244
dbSNP (classic)rs128626244
ClinGenrs128626244
ebirs128626244
HLIrs128626244
Exacrs128626244
Gnomadrs128626244
Varsomers128626244
LitVarrs128626244
Maprs128626244
PheGenIrs128626244
Biobankrs128626244
1000 genomesrs128626244
hgdprs128626244
ensemblrs128626244
geneviewrs128626244
scholarrs128626244
googlers128626244
pharmgkbrs128626244
gwascentralrs128626244
openSNPrs128626244
23andMers128626244
SNPshotrs128626244
SNPdbers128626244
MSV3drs128626244
GWAS Ctlgrs128626244
Max Magnitude0
OMIM300377
Desc
Variant0045
Relatedalso
ClinVar
Risk rs128626244(G;G)
Alt rs128626244(G;G)
Reference Rs128626244(A;A)
Significance Pathogenic
Disease Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32519935T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012002.5,