Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.710 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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CCT | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.710 | GeneticVariation | BEFREE | A mouse line with heterozygous transgenic expression of phospholamban carrying a substitution of cysteine for arginine 9 (TgPLN<sup>R9C</sup>) under the control of α-myosin heavy chain (αMHC) promoter features dilated cardiomyopathy, heart failure, and premature death. | 29325795 | 2018 | |||||||
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0.800 | GeneticVariation | UNIPROT | A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. | 16432188 | 2006 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. | 16432188 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. | 16432188 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. | 16432188 | 2006 | ||||||
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0.700 | GeneticVariation | UNIPROT | A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. | 16432188 | 2006 | |||||||
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T | 0.710 | CausalMutation | CLINVAR | A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations. | 25928149 | 2015 | ||||||
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T | 0.710 | CausalMutation | CLINVAR | Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban. | 25593317 | 2015 | ||||||
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T | 0.710 | CausalMutation | CLINVAR | Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition. | 19139388 | 2009 | ||||||
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T | 0.710 | CausalMutation | CLINVAR | Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses. | 18056057 | 2008 | ||||||
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0.800 | GeneticVariation | UNIPROT | Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. | 12610310 | 2003 | |||||||
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T | 0.710 | CausalMutation | CLINVAR | Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. | 12610310 | 2003 | ||||||
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0.700 | GeneticVariation | UNIPROT | Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. | 12610310 | 2003 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. | 19324307 | 2009 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia? | 26535225 | 2015 | ||||||
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G | 0.710 | CausalMutation | CLINVAR | Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. | 17655857 | 2007 |