Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. 25342278

2014
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy. 22765922

2012
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. 21252143

2011
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 21511876

2011
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice. 21239446

2011
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond. 20075948

2010
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy. 18383048

2008
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003
dbSNP: rs397516209
rs397516209
MYH7
T 0.700 GeneticVariation CLINVAR Molecular etiology of idiopathic cardiomyopathy in Asian populations. 11433818

2001