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: 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: 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: 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: 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: 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: C3160845
Disease: PAI-1 4G/5G polymorphism
PAI-1 4G/5G polymorphism
0.020 < 0.001 2 2011 2014
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
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: C3495426
Disease: Homocysteinemia
Homocysteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 1997 2009
dbSNP: rs763351020
rs763351020
0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
Cardiovascular Diseases 0.020 1.000 2 2005 2014
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: rs1400537035
rs1400537035
0.882 0.200 7 101131931 missense variant C/A;G;T snv
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
Neoplasms; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1400537035
rs1400537035
0.882 0.200 7 101131931 missense variant C/A;G;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1400537035
rs1400537035
0.882 0.200 7 101131931 missense variant C/A;G;T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1402686368
rs1402686368
1.000 0.040 7 101133793 missense variant G/A snv 4.0E-06 7.0E-06
Infection caused by Helicobacter pylori
Infections 0.010 1.000 1 2010 2010
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