Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.720 | GeneticVariation | CLINVAR | Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. | 15542288 | 2004 |
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A | 0.720 | GeneticVariation | CLINVAR | Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. | 17932326 | 2007 |
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A | 0.720 | GeneticVariation | CLINVAR | Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. | 21551322 | 2011 |
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A | 0.720 | GeneticVariation | CLINVAR | Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. | 15923195 | 2005 |
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A | 0.720 | GeneticVariation | CLINVAR | Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. | 22675533 | 2012 |
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A | 0.720 | GeneticVariation | CLINVAR | Mutations in sarcomere protein genes in left ventricular noncompaction. | 18506004 | 2008 |
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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AC | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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AG | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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TA | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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GT | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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TG | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR |