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: 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
dbSNP: rs3813929
rs3813929 		0.851 0.240 X 114584047 upstream gene variant C/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3813929
rs3813929 		0.851 0.240 X 114584047 upstream gene variant C/G;T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs3813929
rs3813929 		0.851 0.240 X 114584047 upstream gene variant C/G;T snv
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2012 2012
dbSNP: rs4911871
rs4911871 		1.000 0.080 X 114762580 intron variant A/G snv 0.15
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs518147
rs518147 		0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs518147
rs518147 		0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2012 2012
dbSNP: rs518147
rs518147 		0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs518147
rs518147 		0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs518147
rs518147 		0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs518147
rs518147 		0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs569959
rs569959 		1.000 0.080 X 114585887 intron variant C/G;T snv
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs6318
rs6318 		0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs6318
rs6318 		0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0586323
Disease: Alcohol Withdrawal Seizures
Alcohol Withdrawal Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 1999 1999
dbSNP: rs6318
rs6318 		0.623 0.520 X 114731326 missense variant C/G;T snv
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015