Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922391
rs193922391
MYL3
0.700 GeneticVariation UNIPROT Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation. 23594557

2013
dbSNP: rs193922391
rs193922391
MYL3
0.700 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs193922391
rs193922391
MYL3
0.700 GeneticVariation UNIPROT Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. 12021217

2002
dbSNP: rs193922391
rs193922391
MYL3
0.700 GeneticVariation UNIPROT Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. 8673105

1996