Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy. 23313350

2013

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy. 22949430

2012

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay. 17351073

2007

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function. 16983074

2006

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718

2000

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Human growth hormone stimulates somatomedin C/insulin-like growth factor I production by the human lymphoid cell line, IM-9. 2753225

1989