SFTPC, surfactant protein C, 6440

N. diseases: 89; N. variants: 11
Source: BEFREE ×
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: C1145670
Disease: Respiratory Failure
Respiratory Failure
Respiratory Tract Diseases 0.020 1.000 2 2004 2016
dbSNP: rs121917836
rs121917836
0.882 0.040 8 22162727 missense variant G/A snv
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
Respiratory Tract Diseases 0.010 1.000 1 2005 2005