| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands. | 30146269 | 2019 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons. | 29497617 | 2018 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | A new insight into CFTR allele frequency in Brazil through next generation sequencing. | 28771972 | 2017 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Development of CFTR Structure. | 22973227 | 2012 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Atomic model of human cystic fibrosis transmembrane conductance regulator: membrane-spanning domains and coupling interfaces. | 18597042 | 2008 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent. | 16963320 | 2007 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. | 16189704 | 2005 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. | 16189704 | 2005 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. | 10794365 | 2000 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. | 10794365 | 2000 |