rs121917834, SFTPC

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Idiopathic Pulmonary Fibrosis
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
63 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.030 1.000 3 2010 2019
Lipoid Proteinosis of Urbach and Wiethe
16 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.010 1.000 1 2011 2011
Lung diseases
CUI: C0024115
Disease: Lung diseases
50 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.030 1.000 3 2005 2009
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
144 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.040 1.000 4 2004 2019
Pulmonary Alveolar Proteinosis
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
7 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.010 1.000 1 2004 2004
Respiratory Distress Syndrome, Newborn
37 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.010 1.000 1 2008 2008
Respiratory Failure
CUI: C1145670
Disease: Respiratory Failure
23 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.020 1.000 2 2004 2016
Signs and Symptoms, Respiratory
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
10 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.010 1.000 1 2016 2016
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
6 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.800 1.000 6 2002 2009
Usual Interstitial Pneumonia
CUI: C4721509
Disease: Usual Interstitial Pneumonia
2 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.010 1.000 1 2010 2010