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: 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: rs2227631
rs2227631
0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54
CUI: C0344315
Disease: Depressed mood
Depressed mood
Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs2227631
rs2227631
0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs2227631
rs2227631
0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
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: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.010 1.000 1 2008 2008
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: C0011570
Disease: Mental Depression
Mental Depression
Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
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
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: rs1799762
rs1799762
7 101126425 upstream gene variant -/G delins
TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF
0.700 0
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: 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