Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893750
rs104893750
MYL3
T 0.700 GeneticVariation CLINVAR MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy. 28658286

2017
dbSNP: rs104893750
rs104893750
MYL3
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs104893750
rs104893750
MYL3
T 0.700 GeneticVariation CLINVAR Widespread macromolecular interaction perturbations in human genetic disorders. 25910212

2015
dbSNP: rs104893750
rs104893750
MYL3
T 0.700 GeneticVariation CLINVAR Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. 25342278

2014
dbSNP: rs104893750
rs104893750
MYL3
T 0.700 GeneticVariation CLINVAR Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting. 22131351

2012
dbSNP: rs104893750
rs104893750
MYL3
T 0.700 GeneticVariation CLINVAR Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. 21823217

2011
dbSNP: rs104893750
rs104893750
MYL3
T 0.700 GeneticVariation CLINVAR Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. 12021217

2002