Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504273
rs727504273
MYH7
G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs727504273
rs727504273
MYH7
G 0.700 GeneticVariation CLINVAR Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect. 28420666

2017
dbSNP: rs727504273
rs727504273
MYH7
G 0.700 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs727504273
rs727504273
MYH7
G 0.700 GeneticVariation CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961

2014
dbSNP: rs727504273
rs727504273
MYH7
G 0.700 GeneticVariation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs727504273
rs727504273
MYH7
G 0.700 GeneticVariation CLINVAR Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations. 15528230

2005
dbSNP: rs727504273
rs727504273
MYH7
G 0.700 GeneticVariation CLINVAR Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. 12820698

2003