SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Disease: Lung Diseases, Interstitial ×
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: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		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: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.040 1.000 4 2004 2019
dbSNP: rs121917836
rs121917836 		0.882 0.040 8 22162727 missense variant G/A snv
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2005 2005
dbSNP: rs200039720
rs200039720 		0.925 0.080 8 22162688 missense variant G/A snv 1.5E-04 1.0E-04
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs201933678
rs201933678 		8 22163196 stop gained C/A snv 1.6E-05 2.1E-05
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010