rs78655421, CFTR

N. diseases: 17
Disease: Signs and Symptoms, Respiratory ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Signs and Symptoms, Respiratory
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
0.010 GeneticVariation BEFREE Here we describe a case of a patient with CF (R117H/7 T/F508del) who presented with recurrent pancreatitis who was effectively treated with ivacaftor in the absence of respiratory symptoms. 31296159 2019