Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 GeneticVariation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713

2014
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 GeneticVariation CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304

2014
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 CausalMutation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503

2011
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 GeneticVariation CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588

2010
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 GeneticVariation CLINVAR A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188

2008
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 CausalMutation CLINVAR A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188

2008
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 CausalMutation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 GeneticVariation 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: rs397516201
rs397516201
MYH7 ; MIR208B
A 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: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 CausalMutation CLINVAR Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 16352453

2006
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
A 0.700 GeneticVariation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003