rs17580, SERPINA1

N. diseases: 14
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.
alpha 1-Antitrypsin Deficiency
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
48 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.750 1.000 17 1989 2019
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
852 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.710 1.000 1 2015 2015
Low density lipoprotein cholesterol measurement
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
1142 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.700 1.000 2 2018 2018
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
1243 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.700 1.000 2 2018 2018
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
2575 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.700 1.000 1 2018 2018
Platelet Count measurement
CUI: C0032181
Disease: Platelet Count measurement
457 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.700 1.000 1 2016 2016
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.700 0
Pulmonary Emphysema
CUI: C0034067
Disease: Pulmonary Emphysema
64 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.700 0
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.020 1.000 2 2019 2019
Lung diseases
CUI: C0024115
Disease: Lung diseases
50 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.020 1.000 2 2010 2018
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
110 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.010 1.000 1 2019 2019
Esophageal Varices
CUI: C0014867
Disease: Esophageal Varices
5 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.010 1.000 1 2019 2019
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.010 1.000 1 2019 2019
Portal Hypertension
CUI: C0020541
Disease: Portal Hypertension
9 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.010 1.000 1 2019 2019