COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
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: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.100 0.727 11 2004 2018
dbSNP: rs737865
rs737865 		0.763 0.240 22 19942598 intron variant A/G snv 0.23
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.090 0.889 9 2004 2017
dbSNP: rs165774
rs165774 		0.807 0.120 22 19965038 3 prime UTR variant G/A snv 0.27
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.040 1.000 4 2011 2017
dbSNP: rs165774
rs165774 		0.807 0.120 22 19965038 3 prime UTR variant G/A snv 0.27
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.040 1.000 4 2013 2018
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2010 2020
dbSNP: rs6269
rs6269 		0.827 0.240 22 19962429 5 prime UTR variant A/G snv 0.38
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2014 2019
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.020 1.000 2 2011 2012
dbSNP: rs2075507
rs2075507 		0.925 0.040 22 19940569 intron variant G/A;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 0.500 2 2007 2009
dbSNP: rs737865
rs737865 		0.763 0.240 22 19942598 intron variant A/G snv 0.23
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2014 2015
dbSNP: rs737865
rs737865 		0.763 0.240 22 19942598 intron variant A/G snv 0.23
CUI: C0002902
Disease: Anencephaly
Anencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2014 2015
dbSNP: rs1342715506
rs1342715506 		0.925 0.080 22 19962703 synonymous variant C/T snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1342715506
rs1342715506 		0.925 0.080 22 19962703 synonymous variant C/T snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1457049406
rs1457049406 		0.851 0.200 22 19962555 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1457049406
rs1457049406 		0.851 0.200 22 19962555 missense variant C/T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1457049406
rs1457049406 		0.851 0.200 22 19962555 missense variant C/T snv
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1457049406
rs1457049406 		0.851 0.200 22 19962555 missense variant C/T snv
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2008 2008
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM 		Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0438696
Disease: Suicidal
Suicidal 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011