SERPINA3, serpin family A member 3, 12

N. diseases: 229; N. variants: 8
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: rs56871159
rs56871159
14 94614449 missense variant G/A;C;T snv 1.2E-02
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs56871159
rs56871159
14 94614449 missense variant G/A;C;T snv 1.2E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs1800463
rs1800463
1.000 0.040 14 94614674 missense variant T/A;C snv
CUI: C4015793
Disease: ANTICHYMOTRYPSIN BOCHUM 1 PHENOTYPE
ANTICHYMOTRYPSIN BOCHUM 1 PHENOTYPE
0.700 0
dbSNP: rs1800463
rs1800463
1.000 0.040 14 94614674 missense variant T/A;C snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.030 1.000 3 1993 2000
dbSNP: rs4934
rs4934
0.925 0.120 14 94614466 missense variant G/A;C snv 0.45
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2000 2000
dbSNP: rs4934
rs4934
0.925 0.120 14 94614466 missense variant G/A;C snv 0.45
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs538662666
rs538662666
1.000 0.080 14 94614480 synonymous variant G/A snv 5.6E-05 1.4E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2000 2000
dbSNP: rs573366685
rs573366685
1.000 0.080 14 94619337 synonymous variant C/A;T snv 6.4E-04; 7.2E-05
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs754246590
rs754246590
1.000 0.120 14 94614689 missense variant C/T snv 1.2E-05 7.0E-06
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs768388223
rs768388223
1.000 0.040 14 94614795 synonymous variant C/T snv 4.0E-06
Squamous cell carcinoma of the head and neck
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs886905373
rs886905373
0.925 0.120 14 94614481 missense variant G/A snv 2.8E-05
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs886905373
rs886905373
0.925 0.120 14 94614481 missense variant G/A snv 2.8E-05
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive
Respiratory Tract Diseases 0.010 1.000 1 1999 1999
dbSNP: rs886905373
rs886905373
0.925 0.120 14 94614481 missense variant G/A snv 2.8E-05
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2007 2007