rs142920240, CFTR

N. diseases: 5
Disease: Signs and Symptoms, Respiratory ×
Source: ALL
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 Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration? 22274833 2012