Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516089
rs397516089
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs397516142
rs397516142
G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs397516165
rs397516165
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs397516254
rs397516254
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs606231324
rs606231324
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs727503253
rs727503253
A 0.700 CausalMutation CLINVAR Genetic Testing in Pediatric Left Ventricular Noncompaction. 29212898

2017

dbSNP: rs727503253
rs727503253
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs727503254
rs727503254
A 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs727503258
rs727503258
C 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs397516089
rs397516089
T 0.700 CausalMutation CLINVAR A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 24691700

2015

dbSNP: rs397516165
rs397516165
T 0.700 GeneticVariation CLINVAR Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. 26025024

2015

dbSNP: rs397516248
rs397516248
T 0.700 CausalMutation CLINVAR A rare mutation in MYH7 gene occurs with overlapping phenotype. 25576864

2015

dbSNP: rs45544633
rs45544633
A 0.700 GeneticVariation CLINVAR Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification. 26383716

2015

dbSNP: rs45544633
rs45544633
A 0.700 GeneticVariation CLINVAR The sarcomeric M-region: a molecular command center for diverse cellular processes. 25961035

2015

dbSNP: rs397516165
rs397516165
T 0.700 GeneticVariation CLINVAR Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians. 25448463

2014

dbSNP: rs397516248
rs397516248
T 0.700 CausalMutation CLINVAR Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24664454

2014

dbSNP: rs397516254
rs397516254
T 0.700 CausalMutation CLINVAR Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24664454

2014

dbSNP: rs397516254
rs397516254
T 0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014

dbSNP: rs397516254
rs397516254
T 0.700 GeneticVariation CLINVAR Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24664454

2014

dbSNP: rs121913642
rs121913642
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: rs397516248
rs397516248
T 0.700 CausalMutation CLINVAR Myosinopathies: pathology and mechanisms. 22918376

2013

dbSNP: rs45544633
rs45544633
A 0.700 GeneticVariation CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082

2013

dbSNP: rs45544633
rs45544633
A 0.700 GeneticVariation CLINVAR Cardiomyopathy mutations in the tail of β-cardiac myosin modify the coiled-coil structure and affect integration into thick filaments in muscle sarcomeres in adult cardiomyocytes. 24047955

2013

dbSNP: rs727503253
rs727503253
A 0.700 CausalMutation CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452

2013

dbSNP: rs727503254
rs727503254
A 0.700 GeneticVariation CLINVAR Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families. 23054336

2013