rs28929474, SERPINA1

N. diseases: 37
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 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.800 1.000 57 1982 2019
Pulmonary Emphysema
CUI: C0034067
Disease: Pulmonary Emphysema
64 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.730 1.000 4 1985 2017
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
852 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.710 1.000 2 1985 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 6 1983 2015
Body Height
CUI: C0005890
Disease: Body Height
3972 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 3 2017 2019
Forced expiratory volume function
CUI: C0016529
Disease: Forced expiratory volume function
1169 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 2 2015 2018
Abnormality of the liver
CUI: C4021780
Disease: Abnormality of the liver
8 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 1985 1985
Alanine aminotransferase measurement
CUI: C0201836
Disease: Alanine aminotransferase measurement
77 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2017 2017
Amino acids measurement
CUI: C0201874
Disease: Amino acids measurement
92 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2016 2016
Biliary calculi
CUI: C0242216
Disease: Biliary calculi
31 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2018 2018
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
2575 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2018 2018
Breast size
CUI: C0425782
Disease: Breast size
38 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2016 2016
Glucagon measurement
CUI: C0337437
Disease: Glucagon measurement
2 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2017 2017
Glucose tolerance test
CUI: C0017741
Disease: Glucose tolerance test
28 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2017 2017
Lean body mass
CUI: C0424678
Disease: Lean body mass
211 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2019 2019
Low density lipoprotein cholesterol measurement
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
1142 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2017 2017
Protein measurement
CUI: C0202202
Disease: Protein measurement
422 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2016 2016
response to bronchodilator
CUI: C3548479
Disease: response to bronchodilator
1106 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2015 2015
Serum Alanine Aminotransferase Measurement
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
77 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2017 2017
Smoking
CUI: C0037369
Disease: Smoking
765 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2018 2018
Smoking Behaviors
CUI: C1519383
Disease: Smoking Behaviors
742 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2018 2018
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
1931 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2019 2019
FRAXE Syndrome
CUI: C0751157
Disease: FRAXE Syndrome
2 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 0
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.050 1.000 5 2011 2019
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.020 1.000 2 2019 2020