| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Mild cystic fibrosis in patients with the rare P5L CFTR mutation. | 21983161 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. | 21520337 | 2011 |
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|
T | 0.700 | GeneticVariation | CLINVAR | A 10-year large-scale cystic fibrosis carrier screening in the Italian population. | 19897426 | 2010 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Biochemical basis of the interaction between cystic fibrosis transmembrane conductance regulator and immunoglobulin-like repeats of filamin. | 20351101 | 2010 |
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|
T | 0.700 | GeneticVariation | CLINVAR | N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel. | 18306312 | 2008 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR. | 17235394 | 2007 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. | 17331079 | 2007 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF. | 17594397 | 2007 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up. | 17594398 | 2007 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Progression of pulmonary hyperinflation and trapped gas associated with genetic and environmental factors in children with cystic fibrosis. | 17137500 | 2006 |
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|
T | 0.700 | GeneticVariation | CLINVAR | High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. | 9439669 | 1997 |
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|
T | 0.700 | CausalMutation | CLINVAR |