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rs730880537

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880537(G;T)
Make rs730880537(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47342906
GeneMYBPC3
is asnp
is mentioned by
dbSNPrs730880537
dbSNP (classic)rs730880537
ClinGenrs730880537
ebirs730880537
HLIrs730880537
Exacrs730880537
Gnomadrs730880537
Varsomers730880537
LitVarrs730880537
Maprs730880537
PheGenIrs730880537
Biobankrs730880537
1000 genomesrs730880537
hgdprs730880537
ensemblrs730880537
geneviewrs730880537
scholarrs730880537
googlers730880537
pharmgkbrs730880537
gwascentralrs730880537
openSNPrs730880537
23andMers730880537
SNPshotrs730880537
SNPdbers730880537
MSV3drs730880537
GWAS Ctlgrs730880537
Max Magnitude0
ClinVar
Risk rs730880537(T;T)
Alt rs730880537(T;T)
Reference Rs730880537(G;G)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene MYBPC3
CLNDBN Cardiomyopathy
Reversed 1
HGVS NC_000011.9:g.47364457C>A
CLNSRC
CLNACC RCV000158079.1,