Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917834
rs121917834
0.700 CausalMutation CLINVAR New surfactant protein C gene mutations associated with diffuse lung disease. 19443464

2009

dbSNP: rs121917834
rs121917834
0.700 CausalMutation CLINVAR Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 15293602

2005

dbSNP: rs121917834
rs121917834
0.700 CausalMutation CLINVAR Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558

2005

dbSNP: rs121917834
rs121917834
0.700 CausalMutation CLINVAR Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 15039969

2004