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rs128626235

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs128626235(C;T)
Make rs128626235(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32816565
GeneDMD
is asnp
is mentioned by
dbSNPrs128626235
dbSNP (classic)rs128626235
ClinGenrs128626235
ebirs128626235
HLIrs128626235
Exacrs128626235
Gnomadrs128626235
Varsomers128626235
LitVarrs128626235
Maprs128626235
PheGenIrs128626235
Biobankrs128626235
1000 genomesrs128626235
hgdprs128626235
ensemblrs128626235
geneviewrs128626235
scholarrs128626235
googlers128626235
pharmgkbrs128626235
gwascentralrs128626235
openSNPrs128626235
23andMers128626235
SNPshotrs128626235
SNPdbers128626235
MSV3drs128626235
GWAS Ctlgrs128626235
GMAF0.0
Max Magnitude0
OMIM300377
Desc
Variant0032
Relatedalso
ClinVar
Risk rs128626235(A;A) rs128626235(T;T)
Alt rs128626235(A;A) rs128626235(T;T)
Reference Rs128626235(C;C)
Significance Pathogenic
Disease Duchenne muscular dystrophy Dilated cardiomyopathy 3B not provided Becker muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy Dilated cardiomyopathy 3B not provided Becker muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.32834682G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011976.14, RCV000150071.3, RCV000255815.1, RCV000372774.1,