HTR2A, 5-hydroxytryptamine receptor 2A, 3356

N. diseases: 289; N. variants: 34
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: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 < 0.001 1 2016 2016
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C1112442
Disease: Female sexual dysfunction
Female sexual dysfunction 		0.010 < 0.001 1 2014 2014
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0013146
Disease: Drug abuse
Drug abuse 		Chemically-Induced Disorders; Mental Disorders 0.010 < 0.001 1 2014 2014
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0036904
Disease: Sexual desire disorder
Sexual desire disorder 		Mental Disorders 0.010 < 0.001 1 2013 2013
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2001 2001
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0013146
Disease: Drug abuse
Drug abuse 		Chemically-Induced Disorders; Mental Disorders 0.010 < 0.001 1 2014 2014
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		Nervous System Diseases 0.010 < 0.001 1 1999 1999
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2018 2018
dbSNP: rs6314
rs6314 		0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 < 0.001 1 2014 2014
dbSNP: rs6314
rs6314 		0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 < 0.001 1 2014 2014
dbSNP: rs6314
rs6314 		0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 < 0.001 1 2014 2014
dbSNP: rs75634836
rs75634836 		0.807 0.160 13 46835532 missense variant C/A;T snv 4.0E-06
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		Musculoskeletal Diseases; Nervous System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs757096279
rs757096279 		13 46835363 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.040 0.500 4 2001 2013
dbSNP: rs6305
rs6305 		0.882 0.040 13 46892487 synonymous variant G/A snv 1.8E-02 1.7E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 0.500 2 2007 2019
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
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 0.020 0.500 2 2010 2016
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.020 0.500 2 2001 2004
dbSNP: rs6314
rs6314 		0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.020 0.500 2 2001 2005
dbSNP: rs6314
rs6314 		0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 0.500 2 2001 2005
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		Musculoskeletal Diseases; Nervous System Diseases 0.050 0.600 5 1999 2012
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.030 0.667 3 2014 2019
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 0.667 3 2001 2006
dbSNP: rs6314
rs6314 		0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.030 0.667 3 2000 2007
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.100 0.800 10 2010 2019
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.050 0.800 5 2011 2015