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: rs7242
rs7242 		1.000 0.040 7 101138164 3 prime UTR variant T/G snv 0.44
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
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: 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: rs6092
rs6092 		0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6092
rs6092 		0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02
CUI: C3160844
Disease: PAI-1 polymorphism
PAI-1 polymorphism 		0.010 1.000 1 2008 2008
dbSNP: rs6092
rs6092 		0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6092
rs6092 		0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs6092
rs6092 		0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6092
rs6092 		0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs6090
rs6090 		1.000 0.040 7 101128442 missense variant G/A snv 2.9E-02 3.3E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs2227700
rs2227700 		7 101138800 3 prime UTR variant T/C snv 1.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012