rs75527207, CFTR

N. diseases: 15
Disease: Lung diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lung diseases
CUI: C0024115
Disease: Lung diseases
0.020 GeneticVariation BEFREE Ivacaftor caused marked reductions in sputum P. aeruginosa density and airway inflammation and produced modest improvements in radiographic lung disease in subjects with G551D-CFTR mutations. 28222269 2017
Lung diseases
CUI: C0024115
Disease: Lung diseases
0.020 GeneticVariation BEFREE Both G551D, a mutation that causes severe lung disease, and A455E, a mutation associated with mild lung disease, altered but did not abolish CFTR's function as a chloride channel in Xenopus oocytes. 7542778 1995