Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | GeneticVariation | CLINVAR | Genetic testing of 248 Chinese aortopathy patients using a panel assay. | 27611364 | 2016 |
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|
C | 0.700 | GeneticVariation | CLINVAR | The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). | 24793577 | 2014 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. | 17701892 | 2007 |
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|
C | 0.700 | GeneticVariation | CLINVAR | The molecular genetics of Marfan syndrome and related disorders. | 16571647 | 2006 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Fibrillin-1 misfolding and disease. | 16677079 | 2006 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. | 15161917 | 2004 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Epidermal growth factor. Location of disulfide bonds. | 4750422 | 1973 |