rs149989682, ABCA3

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.
Hamman-Rich syndrome
CUI: C0085786
Disease: Hamman-Rich syndrome
8 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.700 1.000 16 2005 2014
Surfactant Metabolism Dysfunction, Pulmonary, 3
8 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.700 1.000 10 2005 2018
Pulmonary arterial hypertension
CUI: C2973725
Disease: Pulmonary arterial hypertension
70 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.700 0
Pulmonary Valve Insufficiency
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
2 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.700 0
Respiratory Insufficiency
CUI: C0035229
Disease: Respiratory Insufficiency
15 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.700 0
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
144 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.020 1.000 2 2012 2018
Respiratory Distress Syndrome, Newborn
37 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.020 1.000 2 2008 2012
Malnutrition
CUI: C0162429
Disease: Malnutrition
29 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.010 1.000 1 2018 2018
Respiratory Distress Syndrome
CUI: C0852283
Disease: Respiratory Distress Syndrome
9 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.010 1.000 1 2012 2012
Respiratory Distress Syndrome, Adult
60 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.010 1.000 1 2012 2012