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: rs2070682
rs2070682 		1.000 0.120 7 101133986 intron variant T/C snv 0.44
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2227684
rs2227684 		1.000 0.040 7 101133650 intron variant G/A;T snv 0.41
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs3020623
rs3020623 		7 101129564 intron variant G/A snv 0.32
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3020623
rs3020623 		7 101129564 intron variant G/A snv 0.32
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
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: 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
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
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
dbSNP: rs1411224107
rs1411224107 		0.882 0.160 7 101128439 missense variant C/T snv 7.0E-06
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2000 2000