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: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.030 1.000 3 2000 2005
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0564567
Disease: Impulsive character (finding)
Impulsive character (finding) 		0.030 1.000 3 2002 2012
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: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C4285807
Disease: Behavioral and psychological symptoms of dementia
Behavioral and psychological symptoms of dementia 		0.030 1.000 3 2004 2017
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: rs7997012
rs7997012 		0.807 0.080 13 46837850 intron variant A/G snv 0.69
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.030 1.000 3 2011 2019
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: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.020 1.000 2 2006 2018
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.020 1.000 2 2011 2017
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.020 1.000 2 2014 2014
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence 		Chemically-Induced Disorders; Mental Disorders 0.020 1.000 2 2009 2014
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.020 1.000 2 2013 2014
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.020 1.000 2 2010 2020
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0011253
Disease: Delusions
Delusions 		Behavior and Behavior Mechanisms 0.020 1.000 2 2009 2017
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2000 2007
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0751771
Disease: Sleep Bruxism
Sleep Bruxism 		Nervous System Diseases; Mental Disorders; Stomatognathic Diseases 0.020 1.000 2 2012 2017
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0018524
Disease: Hallucinations
Hallucinations 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.020 1.000 2 2007 2017
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 1.000 2 2001 2007
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2005 2009
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: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.020 1.000 2 2005 2009
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0021167
Disease: Incontinence
Incontinence 		Nervous System Diseases 0.020 1.000 2 2007 2010
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0036337
Disease: Schizoaffective Disorder
Schizoaffective Disorder 		Mental Disorders 0.020 1.000 2 2004 2010
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: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0871189
Disease: Psychotic symptom
Psychotic symptom 		0.020 1.000 2 2001 2003