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rs730880683

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs730880683(-;T)
Make rs730880683(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47348473
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880683
dbSNP (classic)rs730880683
ClinGenrs730880683
ebirs730880683
HLIrs730880683
Exacrs730880683
Gnomadrs730880683
Varsomers730880683
LitVarrs730880683
Maprs730880683
PheGenIrs730880683
Biobankrs730880683
1000 genomesrs730880683
hgdprs730880683
ensemblrs730880683
geneviewrs730880683
scholarrs730880683
googlers730880683
pharmgkbrs730880683
gwascentralrs730880683
openSNPrs730880683
23andMers730880683
SNPshotrs730880683
SNPdbers730880683
MSV3drs730880683
GWAS Ctlgrs730880683
Max Magnitude0
ClinVar
Risk rs730880683(T;T)
Alt rs730880683(T;T)
Reference Rs730880683(-;-)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47370025dupA
CLNSRC
CLNACC RCV000158418.1,