rs121917834, SFTPC

N. diseases: 10
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 We describe three patients carrying the same I73T SPC mutation with very different phenotypes, clinical course (ranging from mild respiratory symptoms to death for respiratory failure) and outcome. 26925580 2016