ACE, angiotensin I converting enzyme, 1636

N. diseases: 1082; N. variants: 82
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: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2008 2009
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2006 2012
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.020 1.000 2 2006 2009
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2006 2012
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0006625
Disease: Cachexia
Cachexia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0085077
Disease: Sweet Syndrome
Sweet Syndrome 		Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2015 2015
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4292
rs4292 		1.000 0.040 17 63476980 upstream gene variant C/T snv 0.71
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs797045079
rs797045079 		1.000 0.120 17 63477106 frameshift variant CTCGGGCCGCCGGGGGCCGG/- del 1.4E-05
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1157043147
rs1157043147 		1.000 0.120 17 63477150 missense variant T/C snv 2.8E-05
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs750712925
rs750712925 		0.925 0.080 17 63477227 missense variant G/A;C;T snv 3.2E-05
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological 		Behavior and Behavior Mechanisms 0.010 1.000 1 2001 2001
dbSNP: rs750712925
rs750712925 		0.925 0.080 17 63477227 missense variant G/A;C;T snv 3.2E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2007 2007