Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881116
rs730881116
T 0.700 GeneticVariation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013

dbSNP: rs730881116
rs730881116
T 0.700 GeneticVariation CLINVAR Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 22857948

2012

dbSNP: rs730881116
rs730881116
T 0.700 GeneticVariation CLINVAR Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging. 20439259

2010

dbSNP: rs730881116
rs730881116
T 0.700 GeneticVariation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003