Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3218714
rs3218714
MYH7
A 0.700 CausalMutation CLINVAR Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy. 23751935

2013
dbSNP: rs3218714
rs3218714
MYH7
A 0.700 CausalMutation CLINVAR Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. 18029407

2008
dbSNP: rs3218714
rs3218714
MYH7
A 0.700 CausalMutation CLINVAR Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties. 15010274

2004
dbSNP: rs3218714
rs3218714
MYH7
A 0.700 CausalMutation CLINVAR Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003
dbSNP: rs3218714
rs3218714
MYH7
A 0.700 CausalMutation CLINVAR Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. 10882745

2000
dbSNP: rs3218714
rs3218714
MYH7
A 0.700 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene. 8254035

1993
dbSNP: rs3218714
rs3218714
MYH7
A 0.700 CausalMutation CLINVAR Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation. 1638703

1992
dbSNP: rs3218714
rs3218714
MYH7
A 0.700 CausalMutation CLINVAR A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. 1975517

1990