Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 CausalMutation CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082

2013
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 CausalMutation CLINVAR Effects of pathogenic proline mutations on myosin assembly. 22155079

2012
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 CausalMutation CLINVAR Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes. 19854198

2010
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 CausalMutation CLINVAR Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328

2008
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 CausalMutation CLINVAR Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy. 18660445

2008
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 CausalMutation CLINVAR Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 15322983

2004
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
A 0.700 CausalMutation CLINVAR Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy. 15556047

2004