Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516260
rs397516260
MYH7
A 0.700 CausalMutation CLINVAR Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans. 27841901

2017
dbSNP: rs397516260
rs397516260
MYH7
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516260
rs397516260
MYH7
A 0.700 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs397516260
rs397516260
MYH7
A 0.700 CausalMutation CLINVAR Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy. 24865491

2014
dbSNP: rs397516260
rs397516260
MYH7
A 0.700 CausalMutation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713

2014
dbSNP: rs397516260
rs397516260
MYH7
A 0.700 CausalMutation CLINVAR Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy. 23816408

2013
dbSNP: rs397516260
rs397516260
MYH7
A 0.700 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs397516260
rs397516260
MYH7
A 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003