rs121917836, SFTPC

N. diseases: 4
Disease: Respiratory Failure ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Respiratory Failure
CUI: C1145670
Disease: Respiratory Failure
0.010 GeneticVariation BEFREE We describe a full-term infant with respiratory insufficiency associated with a spontaneous heterozygous mutation resulting in a substitution of lysine for glutamic acid at position 66 (= E66K) of the proximal hSP-C COOH flanking propeptide. 15557112 2005