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rs730880553

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880553(C;T)
Make rs730880553(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position47341209
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880553
dbSNP (classic)rs730880553
ClinGenrs730880553
ebirs730880553
HLIrs730880553
Exacrs730880553
Gnomadrs730880553
Varsomers730880553
LitVarrs730880553
Maprs730880553
PheGenIrs730880553
Biobankrs730880553
1000 genomesrs730880553
hgdprs730880553
ensemblrs730880553
geneviewrs730880553
scholarrs730880553
googlers730880553
pharmgkbrs730880553
gwascentralrs730880553
openSNPrs730880553
23andMers730880553
SNPshotrs730880553
SNPdbers730880553
MSV3drs730880553
GWAS Ctlgrs730880553
Max Magnitude0
ClinVar
Risk rs730880553(T;T)
Alt rs730880553(T;T)
Reference Rs730880553(C;C)
Significance Probable-Pathogenic
Disease not provided Primary dilated cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN not provided Primary dilated cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47362760G>A
CLNSRC
CLNACC RCV000158122.2, RCV000208134.1,