rs368505753, CFTR

N. diseases: 1
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.820 GeneticVariation BEFREE Although the decline of lung function did not differ from ΔF508 homozygotes, the fact that a greater proportion of P67L heterozygotes live to an older age suggests that lung function is not the primary factor determining CF progression for P67L heterozygote patients. 28392015 2017
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.820 GeneticVariation BEFREE Improved clinical and radiographic outcomes after treatment with ivacaftor in a young adult with cystic fibrosis with the P67L CFTR mutation. 25732475 2015