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: rs121918560
rs121918560
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: rs121917836
rs121917836
0.700 CausalMutation CLINVAR Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. 15557112

2005

dbSNP: rs121918559
rs121918559
0.700 CausalMutation CLINVAR Hydroxychloroquine and surfactant protein C deficiency. 15647591

2005

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

2004

dbSNP: rs34957318
rs34957318
0.700 GeneticVariation UNIPROT Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 15039969

2004

dbSNP: rs121917835
rs121917835
0.700 CausalMutation CLINVAR Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. 11991887

2002

dbSNP: rs121917835
rs121917835
0.700 CausalMutation CLINVAR Familial fibrocystic pulmonary dysplasia: a new case in a known affected family. 5942662

1966

dbSNP: rs121917835
rs121917835
0.700 CausalMutation CLINVAR Familial fibrocystic pulmonary dysplasia and its relation to Hamman-Rich syndrome. 13817571

1959