SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) ×
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: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		Respiratory Tract Diseases 0.800 1.000 6 2002 2009
dbSNP: rs121917835
rs121917835 		0.925 0.040 8 22164010 missense variant T/A snv
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		Respiratory Tract Diseases 0.800 1.000 5 2002 2005
dbSNP: rs121917836
rs121917836 		0.882 0.040 8 22162727 missense variant G/A snv
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		Respiratory Tract Diseases 0.800 1.000 5 2002 2005
dbSNP: rs121918559
rs121918559 		1.000 0.040 8 22163458 missense variant C/A snv
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		Respiratory Tract Diseases 0.800 1.000 5 2002 2005
dbSNP: rs34957318
rs34957318 		0.925 0.080 8 22163947 missense variant G/A snv 1.1E-03 4.3E-03
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		Respiratory Tract Diseases 0.700 1.000 5 2002 2005
dbSNP: rs121918560
rs121918560 		1.000 0.040 8 22164028 missense variant T/C snv
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		Respiratory Tract Diseases 0.700 0