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rs128625230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128625230(C;T)
Make rs128625230(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position31875331
GeneDMD
is asnp
is mentioned by
dbSNPrs128625230
dbSNP (classic)rs128625230
ClinGenrs128625230
ebirs128625230
HLIrs128625230
Exacrs128625230
Gnomadrs128625230
Varsomers128625230
LitVarrs128625230
Maprs128625230
PheGenIrs128625230
Biobankrs128625230
1000 genomesrs128625230
hgdprs128625230
ensemblrs128625230
geneviewrs128625230
scholarrs128625230
googlers128625230
pharmgkbrs128625230
gwascentralrs128625230
openSNPrs128625230
23andMers128625230
SNPshotrs128625230
SNPdbers128625230
MSV3drs128625230
GWAS Ctlgrs128625230
Max Magnitude0
OMIM300377
Desc
Variant0014
Relatedalso
ClinVar
Risk rs128625230(T;T)
Alt rs128625230(T;T)
Reference Rs128625230(C;C)
Significance Pathogenic
Disease Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.31893448G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011971.17,