SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917834
rs121917834
0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
Respiratory Tract Diseases 0.030 1.000 3 2010 2019
dbSNP: rs121917835
rs121917835
0.925 0.040 8 22164010 missense variant T/A snv
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
Respiratory Tract Diseases 0.010 1.000 1 2008 2008