Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36211723
rs36211723
MYBPC3
T 0.700 CausalMutation CLINVAR MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy. 28658286

2017
dbSNP: rs36211723
rs36211723
MYBPC3
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs36211723
rs36211723
MYBPC3
T 0.700 CausalMutation CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304

2014
dbSNP: rs36211723
rs36211723
MYBPC3
T 0.700 CausalMutation CLINVAR MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India. 18273486

2008
dbSNP: rs36211723
rs36211723
MYBPC3
T 0.700 CausalMutation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008
dbSNP: rs36211723
rs36211723
MYBPC3
T 0.700 CausalMutation CLINVAR A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. 16858239

2006
dbSNP: rs36211723
rs36211723
MYBPC3
T 0.700 CausalMutation CLINVAR Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027

2004