rs78655421, CFTR

N. diseases: 17
Disease: Aspergillosis, Allergic Bronchopulmonary ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Aspergillosis, Allergic Bronchopulmonary
CUI: C0004031
Disease: Aspergillosis, Allergic Bronchopulmonary
0.010 GeneticVariation BEFREE Six patients with ABPA were found to be heterozygous for one CFTR mutation, including Delta F508 (n = 2), G542X (n = 1), R1162X (n = 1), 1717-1G(-)>A (n = 1), and R117H (n = 1). 11243954 2001