Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572

2019
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075

2019
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322

2013
dbSNP: rs397516127
rs397516127
MYH7
A 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: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. 23690394

2013
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. 22112859

2012
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588

2010
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation 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: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. 15858117

2005
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. 11133230

2001
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. 10750581

1999