SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Source: ALL
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: rs28929474
rs28929474 		0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 57 1982 2019
dbSNP: rs17580
rs17580 		0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.750 1.000 17 1989 2019
dbSNP: rs28929474
rs28929474 		0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.730 1.000 4 1985 2017
dbSNP: rs28929474
rs28929474 		0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.710 1.000 2 1985 2015
dbSNP: rs11558261
rs11558261 		0.882 0.160 14 94382823 missense variant C/T snv 9.1E-05 3.5E-05
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 1.000 1 1990 1990
dbSNP: rs17580
rs17580 		0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.710 1.000 1 2015 2015
dbSNP: rs61761869
rs61761869 		1.000 0.160 14 94378529 missense variant G/A;T snv 2.9E-04
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 12 1989 2016
dbSNP: rs28931570
rs28931570 		0.882 0.160 14 94383051 missense variant G/A snv 1.1E-03 1.5E-03
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 11 1987 2016
dbSNP: rs775982338
rs775982338 		0.882 0.160 14 94383009 inframe deletion AGA/- delins 1.7E-04
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 9 1983 2014
dbSNP: rs121912714
rs121912714 		0.882 0.160 14 94380949 missense variant T/A snv 4.7E-04 3.3E-04
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 7 1989 2011
dbSNP: rs199422209
rs199422209 		0.882 0.160 14 94378528 missense variant G/A;C;T snv 4.8E-05; 1.2E-05; 3.2E-05
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 7 1989 2016
dbSNP: rs28929474
rs28929474 		0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 6 1983 2015
dbSNP: rs28931569
rs28931569 		0.882 0.160 14 94383044 missense variant A/G snv 4.4E-05 3.5E-05
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 6 1988 2014
dbSNP: rs55819880
rs55819880 		0.882 0.160 14 94383008 missense variant G/A snv 1.4E-04
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 6 1991 2011
dbSNP: rs199422210
rs199422210 		1.000 0.160 14 94382686 stop gained G/A;C;T snv 1.9E-04; 1.6E-05; 4.0E-06
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 4 1987 2008
dbSNP: rs199422211
rs199422211 		0.882 0.160 14 94381067 stop gained T/A snv 1.6E-05 7.0E-06
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 4 1988 2008
dbSNP: rs763023697
rs763023697 		1.000 0.160 14 94378576 frameshift variant A/-;AA delins
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 4 1989 2016
dbSNP: rs764325655
rs764325655 		0.882 0.160 14 94378548 frameshift variant G/-;GG delins 4.2E-05
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 4 1994 2011
dbSNP: rs864622043
rs864622043 		1.000 0.160 14 94378591 frameshift variant GCAGCTTC/TGTTTTT delins
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 4 1989 2016
dbSNP: rs28929474
rs28929474 		0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 3 2017 2019
dbSNP: rs17580
rs17580 		0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2018
dbSNP: rs17580
rs17580 		0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2018 2018
dbSNP: rs28929474
rs28929474 		0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 2 2015 2018
dbSNP: rs28931568
rs28931568 		0.882 0.160 14 94382966 missense variant C/T snv
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 2 1990 2004
dbSNP: rs28931572
rs28931572 		0.882 0.160 14 94382891 missense variant A/T snv
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 2 1990 2004