HTR2C, 5-hydroxytryptamine receptor 2C, 3358

N. diseases: 140; N. variants: 11
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: rs1414334
rs1414334 		0.851 0.160 X 114903581 intron variant C/G snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.050 0.800 5 2007 2018
dbSNP: rs6318
rs6318 		0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.040 1.000 4 2001 2018
dbSNP: rs518147
rs518147 		0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.030 1.000 3 2007 2018
dbSNP: rs6318
rs6318 		0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.030 0.333 3 1999 2003
dbSNP: rs6318
rs6318 		0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.030 1.000 3 2012 2018
dbSNP: rs6318
rs6318 		0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.030 0.667 3 1999 2015
dbSNP: rs6318
rs6318 		0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.030 0.667 3 1999 2015
dbSNP: rs6318
rs6318 		0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.030 1.000 3 2012 2018
dbSNP: rs6318
rs6318 		0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.030 1.000 3 2012 2018
dbSNP: rs1414334
rs1414334 		0.851 0.160 X 114903581 intron variant C/G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 < 0.001 2 2014 2015
dbSNP: rs3813929
rs3813929 		0.851 0.240 X 114584047 upstream gene variant C/G;T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2007 2009
dbSNP: rs6318
rs6318 		0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		Nervous System Diseases 0.020 0.500 2 2004 2007
dbSNP: rs6318
rs6318 		0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.020 1.000 2 2014 2018
dbSNP: rs6318
rs6318 		0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.020 0.500 2 2004 2007
dbSNP: rs12836771
rs12836771 		0.882 0.080 X 114650913 intron variant A/G snv 0.12
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12836771
rs12836771 		0.882 0.080 X 114650913 intron variant A/G snv 0.12
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs12836771
rs12836771 		0.882 0.080 X 114650913 intron variant A/G snv 0.12
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs12836771
rs12836771 		0.882 0.080 X 114650913 intron variant A/G snv 0.12
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12837651
rs12837651 		1.000 0.040 X 114629635 intron variant C/A;T snv
CUI: C2938940
Disease: Post stroke depression
Post stroke depression 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs1414334
rs1414334 		0.851 0.160 X 114903581 intron variant C/G snv
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs1414334
rs1414334 		0.851 0.160 X 114903581 intron variant C/G snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1414334
rs1414334 		0.851 0.160 X 114903581 intron variant C/G snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2010 2010
dbSNP: rs17326429
rs17326429 		1.000 0.080 X 114591899 intron variant G/A snv 0.12
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2192371
rs2192371 		1.000 0.040 X 114655361 intron variant G/A snv
CUI: C2938940
Disease: Post stroke depression
Post stroke depression 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs3813929
rs3813929 		0.851 0.240 X 114584047 upstream gene variant C/G;T snv
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009