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: rs1451499324
rs1451499324
0.925 0.080 8 22163902 missense variant C/G snv 8.1E-06 1.4E-05
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial
Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs754831645
rs754831645
0.925 0.080 8 22163134 missense variant G/A snv 4.0E-06
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial
Respiratory Tract Diseases 0.010 1.000 1 2014 2014