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rs398124074

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124074(C;T)
Make rs398124074(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position31479043
GeneDMD
is asnp
is mentioned by
dbSNPrs398124074
dbSNP (classic)rs398124074
ClinGenrs398124074
ebirs398124074
HLIrs398124074
Exacrs398124074
Gnomadrs398124074
Varsomers398124074
LitVarrs398124074
Maprs398124074
PheGenIrs398124074
Biobankrs398124074
1000 genomesrs398124074
hgdprs398124074
ensemblrs398124074
geneviewrs398124074
scholarrs398124074
googlers398124074
pharmgkbrs398124074
gwascentralrs398124074
openSNPrs398124074
23andMers398124074
SNPshotrs398124074
SNPdbers398124074
MSV3drs398124074
GWAS Ctlgrs398124074
Max Magnitude0
ClinVar
Risk rs398124074(T;T)
Alt rs398124074(T;T)
Reference Rs398124074(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.31497160G>A
CLNSRC HGMD
CLNACC RCV000080803.4, RCV000179203.1, RCV000179204.2,