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rs398123974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CGAGCAGAA;CGAGCAGAA) 0 common in clinvar
Make rs398123974(CGAGCAGAA;T)
Make rs398123974(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32365041
GeneDMD
is asnp
is mentioned by
dbSNPrs398123974
ebirs398123974
HLIrs398123974
Exacrs398123974
Varsomers398123974
Maprs398123974
PheGenIrs398123974
hapmaprs398123974
1000 genomesrs398123974
hgdprs398123974
ensemblrs398123974
gopubmedrs398123974
geneviewrs398123974
scholarrs398123974
googlers398123974
pharmgkbrs398123974
gwascentralrs398123974
openSNPrs398123974
23andMers398123974
23andMe allrs398123974
SNP Nexus

SNPshotrs398123974
SNPdbers398123974
MSV3drs398123974
GWAS Ctlgrs398123974
Max Magnitude0
ClinVar
Risk rs398123974(T;T)
Alt rs398123974(T;T)
Reference rs398123974(CGAGCAGAA;CGAGCAGAA)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B
Reversed 1
HGVS NC_000023.10:g.32383158_32383166delTTCTGCTCGinsA
CLNSRC ClinVar
CLNACC RCV000080637.3,