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: 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: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.020 1.000 2 2018 2019
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: rs1799768
rs1799768 		0.807 0.360 7 101126425 upstream gene variant -/A;C ins
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1799768
rs1799768 		0.807 0.360 7 101126425 upstream gene variant -/A;C ins
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
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: 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 0.500 2 2014 2018
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2227631
rs2227631 		0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2227631
rs2227631 		0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2227631
rs2227631 		0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2227631
rs2227631 		0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2227631
rs2227631 		0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2227631
rs2227631 		0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018