Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894363
rs104894363
MYL2
0.800 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs104894363
rs104894363
MYL2
0.800 GeneticVariation UNIPROT Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 12818575

2003
dbSNP: rs104894363
rs104894363
MYL2
0.800 GeneticVariation UNIPROT Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. 12404107

2002
dbSNP: rs104894363
rs104894363
MYL2
0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation. 11102452

2001
dbSNP: rs104894363
rs104894363
MYL2
0.800 GeneticVariation UNIPROT Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. 9535554

1998
dbSNP: rs104894363
rs104894363
MYL2
0.800 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
dbSNP: rs104894363
rs104894363
MYL2
T 0.800 CausalMutation CLINVAR