| 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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0.800 | 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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0.710 | GeneticVariation | BEFREE | Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27. | 12639993 | 2003 | |||||||
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G | 0.710 | CausalMutation | CLINVAR | Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. | 12639993 | 2003 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. | 12639993 | 2003 | ||||||
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0.010 | GeneticVariation | BEFREE | Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27. | 12639993 | 2003 | |||||||
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0.010 | GeneticVariation | BEFREE | Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27. | 12639993 | 2003 | |||||||
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G | 0.710 | CausalMutation | CLINVAR | [Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area]. | 16235537 | 2005 | ||||||
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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 | 0.700 | CausalMutation | CLINVAR | Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. | 17010801 | 2006 | ||||||
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G | 0.710 | CausalMutation | CLINVAR | Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. | 17655857 | 2007 |