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rs398123834

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123834(A;A)
Make rs398123834(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position31178668
GeneDMD
is asnp
is mentioned by
dbSNPrs398123834
dbSNP (classic)rs398123834
ClinGenrs398123834
ebirs398123834
HLIrs398123834
Exacrs398123834
Gnomadrs398123834
Varsomers398123834
LitVarrs398123834
Maprs398123834
PheGenIrs398123834
Biobankrs398123834
1000 genomesrs398123834
hgdprs398123834
ensemblrs398123834
geneviewrs398123834
scholarrs398123834
googlers398123834
pharmgkbrs398123834
gwascentralrs398123834
openSNPrs398123834
23andMers398123834
SNPshotrs398123834
SNPdbers398123834
MSV3drs398123834
GWAS Ctlgrs398123834
Max Magnitude0
ClinVar
Risk rs398123834(A;A) rs398123834(C;C)
Alt rs398123834(A;A) rs398123834(C;C)
Reference Rs398123834(G;G)
Significance Pathogenic
Disease Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.31196785C>G; NC_000023.10:g.31196785C>T
CLNSRC HGMD
CLNACC RCV000201125.1, RCV000080415.4, RCV000180031.1, RCV000180032.1,