Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34957318
rs34957318
BMP1 ; SFTPC
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: rs121917834
rs121917834
SFTPC
0.800 GeneticVariation UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558

2004
dbSNP: rs121917834
rs121917834
SFTPC
C 0.800 CausalMutation CLINVAR Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558

2004
dbSNP: rs121917835
rs121917835
BMP1 ; SFTPC
0.800 GeneticVariation UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558

2004
dbSNP: rs121917836
rs121917836
SFTPC
0.800 GeneticVariation UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558

2004
dbSNP: rs121918559
rs121918559
BMP1 ; SFTPC
0.800 GeneticVariation UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558

2004
dbSNP: rs34957318
rs34957318
BMP1 ; SFTPC
0.700 GeneticVariation UNIPROT Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. 15572558

2004