SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Disease: Pulmonary Alveolar Proteinosis ×
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: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		Respiratory Tract Diseases 0.700 0
dbSNP: rs121917834
rs121917834 		0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		Respiratory Tract Diseases 0.010 1.000 1 2004 2004