Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922384
rs193922384
MYBPC3
TGCAGACATAGATGCCCCC 0.700 CausalMutation CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304

2014
dbSNP: rs193922384
rs193922384
MYBPC3
TGCAGACATAGATGCCCCC 0.700 CausalMutation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615

2014
dbSNP: rs193922384
rs193922384
MYBPC3
TGCAGACATAGATGCCCCC 0.700 CausalMutation CLINVAR T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. 23549607

2013
dbSNP: rs193922384
rs193922384
MYBPC3
TGCAGACATAGATGCCCCC 0.700 CausalMutation CLINVAR Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications. 20864638

2010
dbSNP: rs193922384
rs193922384
MYBPC3
TGCAGACATAGATGCCCCC 0.700 CausalMutation CLINVAR Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004
dbSNP: rs193922384
rs193922384
MYBPC3
TGCAGACATAGATGCCCCC 0.700 CausalMutation CLINVAR Functional and spectroscopic studies of a familial hypertrophic cardiomyopathy mutation in Motif X of cardiac myosin binding protein-C. 12202917

2002
dbSNP: rs193922384
rs193922384
MYBPC3
TGCAGACATAGATGCCCCC 0.700 CausalMutation CLINVAR Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. 11499718

2001
dbSNP: rs193922384
rs193922384
MYBPC3
TGCAGACATAGATGCCCCC 0.700 CausalMutation CLINVAR Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. 7493025

1995