SERPINE1, serpin family E member 1, 5054

N. diseases: 770; N. variants: 23
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: rs1799762
rs1799762 		7 101126425 upstream gene variant -/G delins
CUI: C4016325
Disease: TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF
TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF 		0.700 0
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C3160845
Disease: PAI-1 4G/5G polymorphism
PAI-1 4G/5G polymorphism 		0.020 < 0.001 2 2011 2014
dbSNP: rs1411224107
rs1411224107 		0.882 0.160 7 101128439 missense variant C/T snv 7.0E-06
CUI: C4552766
Disease: Miscarriage
Miscarriage 		Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2007 2007
dbSNP: rs1411224107
rs1411224107 		0.882 0.160 7 101128439 missense variant C/T snv 7.0E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs6092
rs6092 		0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 < 0.001 1 2011 2011
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2011 2011
dbSNP: rs769665945
rs769665945 		0.882 0.160 7 101137079 missense variant C/A;T snv 4.0E-06; 3.6E-05
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular 		Nervous System Diseases; Mental Disorders; Cardiovascular Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 0.500 2 2007 2017
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion 		Eye Diseases; Cardiovascular Diseases 0.020 0.500 2 2013 2015
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 0.500 2 2014 2018
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 0.667 3 2003 2014
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.040 0.750 4 2006 2015
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.060 0.833 6 2006 2018
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.030 1.000 3 2003 2012
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.030 1.000 3 2005 2009
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.030 1.000 3 2014 2019
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2014 2016
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.020 1.000 2 2018 2019
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2006 2018
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2014 2018
dbSNP: rs2227631
rs2227631 		0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2006 2018
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2005 2009
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2014 2016
dbSNP: rs763351020
rs763351020 		0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2007 2019