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: 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: rs1799768
rs1799768 		0.807 0.360 7 101126425 upstream gene variant -/A;C ins
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2015 2015
dbSNP: rs1799768
rs1799768 		0.807 0.360 7 101126425 upstream gene variant -/A;C ins
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2015 2015
dbSNP: rs1799768
rs1799768 		0.807 0.360 7 101126425 upstream gene variant -/A;C ins
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1799768
rs1799768 		0.807 0.360 7 101126425 upstream gene variant -/A;C ins
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1554362148
rs1554362148 		1.000 0.040 7 101130504 frameshift variant -/C delins
CUI: C2750067
Disease: Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Activator Inhibitor-1 Deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
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: rs1194865614
rs1194865614 		1.000 0.040 7 101132065 splice donor variant -/TA delins 4.0E-06
CUI: C2750067
Disease: Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Activator Inhibitor-1 Deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 1 1992 1992
dbSNP: rs1442033697
rs1442033697 		7 101135780 frameshift variant A/- del
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2004 2004
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: 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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0025295
Disease: Meningitis, Pneumococcal
Meningitis, Pneumococcal 		Infections; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs1799889
rs1799889 		0.649 0.600 7 101126430 upstream gene variant A/G snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
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: 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: C0029443
Disease: Osteomyelitis
Osteomyelitis 		Infections; Musculoskeletal Diseases 0.010 1.000 1 2013 2013