| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | UNIPROT | Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. | 2726768 | 1989 |
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|
0.810 | GeneticVariation | UNIPROT | Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum. | 23725921 | 2013 |
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|
0.810 | GeneticVariation | UNIPROT | Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. | 25053660 | 2014 |
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|
0.810 | GeneticVariation | UNIPROT | An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). | 10422803 | 1999 |
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|
0.810 | GeneticVariation | UNIPROT | Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. | 15177124 | 2004 |
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|
0.810 | GeneticVariation | UNIPROT | A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. | 1867200 | 1991 |
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|
0.810 | GeneticVariation | UNIPROT | Recommendations for the management of patients with familial hypercholesterolemia. | 25404096 | 2015 |
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|
0.810 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 |
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|
0.810 | GeneticVariation | UNIPROT | INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia. | 22364837 | 2012 |