rs121917836, SFTPC

N. diseases: 4
Disease: Lung Diseases, Interstitial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.010 GeneticVariation BEFREE The E66K substitution is representative of a new class of SP-C mutation associated with interstitial lung disease that is diverted from the normal biosynthetic pathway. 15557112 2005