Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45611033
rs45611033
MYH7
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs45611033
rs45611033
MYH7
A 0.700 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs45611033
rs45611033
MYH7
A 0.700 CausalMutation CLINVAR A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. 27483260

2016
dbSNP: rs45611033
rs45611033
MYH7
A 0.700 CausalMutation CLINVAR Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. 27600940

2016
dbSNP: rs45611033
rs45611033
MYH7
A 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy. 26199943

2015
dbSNP: rs45611033
rs45611033
MYH7
A 0.700 CausalMutation CLINVAR Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy. 21832052

2011
dbSNP: rs45611033
rs45611033
MYH7
A 0.700 CausalMutation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008