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rs128626246

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs128626246(A;A)
Make rs128626246(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32464674
GeneDMD
is asnp
is mentioned by
dbSNPrs128626246
dbSNP (classic)rs128626246
ClinGenrs128626246
ebirs128626246
HLIrs128626246
Exacrs128626246
Gnomadrs128626246
Varsomers128626246
LitVarrs128626246
Maprs128626246
PheGenIrs128626246
Biobankrs128626246
1000 genomesrs128626246
hgdprs128626246
ensemblrs128626246
geneviewrs128626246
scholarrs128626246
googlers128626246
pharmgkbrs128626246
gwascentralrs128626246
openSNPrs128626246
23andMers128626246
SNPshotrs128626246
SNPdbers128626246
MSV3drs128626246
GWAS Ctlgrs128626246
Max Magnitude0
OMIM300377
Desc
Variant0049
Relatedalso
ClinVar
Risk rs128626246(A;A)
Alt rs128626246(A;A)
Reference Rs128626246(G;G)
Significance Pathogenic
Disease Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32482791C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012006.5,