Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3218716
rs3218716
T 0.700 CausalMutation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713

2014

dbSNP: rs3218716
rs3218716
T 0.700 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322

2013

dbSNP: rs3218716
rs3218716
T 0.700 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013

dbSNP: rs3218716
rs3218716
T 0.700 CausalMutation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013

dbSNP: rs3218716
rs3218716
T 0.700 CausalMutation CLINVAR Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 22857948

2012

dbSNP: rs3218716
rs3218716
T 0.700 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009

dbSNP: rs3218716
rs3218716
T 0.700 CausalMutation CLINVAR Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations. 19880069

2009

dbSNP: rs3218716
rs3218716
T 0.700 CausalMutation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710

2006

dbSNP: rs3218716
rs3218716
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: rs3218716
rs3218716
T 0.700 CausalMutation CLINVAR The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. 10521296

1999

dbSNP: rs3218716
rs3218716
T 0.700 GeneticVariation CLINVAR