Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34957318
rs34957318
0.700 GeneticVariation UNIPROT Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. 15557112

2005

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

2004

dbSNP: rs34957318
rs34957318
0.700 GeneticVariation UNIPROT Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. 15293602

2004

dbSNP: rs34957318
rs34957318
0.700 GeneticVariation UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558

2004

dbSNP: rs34957318
rs34957318
0.700 GeneticVariation UNIPROT Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. 11991887

2002