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rs398123971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGGAGAG;AGGAGAG) 0 common in clinvar
Make rs398123971(-;-)
Make rs398123971(-;AGGAGAG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32365137
GeneDMD
is asnp
is mentioned by
dbSNPrs398123971
ebirs398123971
HLIrs398123971
Exacrs398123971
Varsomers398123971
Maprs398123971
PheGenIrs398123971
hapmaprs398123971
1000 genomesrs398123971
hgdprs398123971
ensemblrs398123971
gopubmedrs398123971
geneviewrs398123971
scholarrs398123971
googlers398123971
pharmgkbrs398123971
gwascentralrs398123971
openSNPrs398123971
23andMers398123971
23andMe allrs398123971
SNP Nexus

SNPshotrs398123971
SNPdbers398123971
MSV3drs398123971
GWAS Ctlgrs398123971
Max Magnitude0
ClinVar
Risk rs398123971(;)
Alt rs398123971(;)
Reference rs398123971(AGGAGAG;AGGAGAG)
Significance Pathogenic
Disease Dilated cardiomyopathy 3B
Variation info
Gene DMD
CLNDBN Dilated cardiomyopathy 3B
Reversed 1
HGVS NC_000023.10:g.32383254_32383260delCTCTCCT
CLNSRC ClinVar
CLNACC RCV000080634.3,