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: rs117222687
rs117222687 		22 19968491 intron variant G/C snv 3.8E-02 4.1E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs117222687
rs117222687 		22 19968491 intron variant G/C snv 3.8E-02 4.1E-02
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs165655
rs165655 		1.000 0.040 22 19970240 3 prime UTR variant G/A snv 0.56
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs165722
rs165722 		22 19961490 intron variant C/T snv 0.50
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs4633
rs4633 		0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2014 2014
dbSNP: rs4633
rs4633 		0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2014 2014
dbSNP: rs5993889
rs5993889 		22 19967852 intron variant T/C;G snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5993889
rs5993889 		22 19967852 intron variant T/C;G snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6267
rs6267 		0.827 0.200 22 19962740 missense variant G/A;T snv 4.8E-05; 1.4E-02
CUI: C2675945
Disease: SCHIZOPHRENIA, SUSCEPTIBILITY TO
SCHIZOPHRENIA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.100 0.854 123 1997 2019
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.100 0.842 38 2003 2020
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.800 30 2000 2019
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.800 30 2000 2019
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.100 0.931 29 2004 2019
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.100 0.889 27 1996 2019
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.100 0.960 25 1997 2019
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.100 0.920 25 2004 2019
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		Mental Disorders 0.100 0.960 25 1997 2019
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.100 1.000 23 2005 2019
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.100 0.857 21 2008 2019
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.100 0.857 21 2008 2019
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.100 0.857 21 2008 2019
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.100 0.950 20 2005 2017
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.100 1.000 16 1997 2017
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		Mental Disorders 0.100 1.000 15 2002 2018