Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515942
rs397515942
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs397515942
rs397515942
T 0.700 CausalMutation CLINVAR Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy. 25228707

2014

dbSNP: rs397515942
rs397515942
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003