Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516128
rs397516128
MYH7
G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516128
rs397516128
MYH7
G 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516128
rs397516128
MYH7
G 0.700 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs397516128
rs397516128
MYH7
G 0.700 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs397516128
rs397516128
MYH7
G 0.700 GeneticVariation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs397516128
rs397516128
MYH7
G 0.700 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs397516128
rs397516128
MYH7
G 0.700 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011