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: 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
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.020 1.000 2 2004 2017
dbSNP: rs6314
rs6314 		0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.020 1.000 2 2014 2014
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: rs6314
rs6314 		0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.020 1.000 2 2001 2014
dbSNP: rs75634836
rs75634836 		0.807 0.160 13 46835532 missense variant C/A;T snv 4.0E-06
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		Mental Disorders 0.020 1.000 2 2008 2012
dbSNP: rs7997012
rs7997012 		0.807 0.080 13 46837850 intron variant A/G snv 0.69
CUI: C0270549
Disease: Generalized Anxiety Disorder
Generalized Anxiety Disorder 		Mental Disorders 0.020 1.000 2 2013 2013
dbSNP: rs12584920
rs12584920 		1.000 0.040 13 46890902 intron variant G/C;T snv
CUI: C3178789
Disease: Widespread Chronic Pain
Widespread Chronic Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs1328674
rs1328674 		1.000 0.120 13 46867572 intron variant T/C;G snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1475196
rs1475196 		1.000 0.040 13 46881488 intron variant A/C snv 1.4E-03
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs17069005
rs17069005 		1.000 0.080 13 46849983 intron variant A/G snv 0.11
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1805055
rs1805055 		0.882 0.120 13 46895833 missense variant G/C;T snv 2.0E-05; 1.8E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 1997 1997
dbSNP: rs1805055
rs1805055 		0.882 0.120 13 46895833 missense variant G/C;T snv 2.0E-05; 1.8E-02
CUI: C4694057
Disease: Taq1A POLYMORPHISM
Taq1A POLYMORPHISM 		0.010 1.000 1 2007 2007
dbSNP: rs1805055
rs1805055 		0.882 0.120 13 46895833 missense variant G/C;T snv 2.0E-05; 1.8E-02
CUI: C0027849
Disease: Neuroleptic Malignant Syndrome
Neuroleptic Malignant Syndrome 		Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 1998 1998
dbSNP: rs1885884
rs1885884 		13 46856141 non coding transcript exon variant C/A;G;T snv
CUI: C0013146
Disease: Drug abuse
Drug abuse 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs1885884
rs1885884 		13 46856141 non coding transcript exon variant C/A;G;T snv
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs1923884
rs1923884 		1.000 0.120 13 46847701 intron variant C/T snv 0.12
CUI: C0015674
Disease: Chronic Fatigue Syndrome
Chronic Fatigue Syndrome 		Infections; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1923884
rs1923884 		1.000 0.120 13 46847701 intron variant C/T snv 0.12
CUI: C0235162
Disease: Difficulty sleeping
Difficulty sleeping 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1923885
rs1923885 		1.000 0.040 13 46848951 intron variant T/C snv 0.43
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1923886
rs1923886 		13 46849156 intron variant C/T snv 0.64
CUI: C0239377
Disease: Arm Pain
Arm Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs1928040
rs1928040 		1.000 0.040 13 46873101 intron variant G/A snv 0.49
CUI: C0024517
Disease: Major depression, single episode
Major depression, single episode 		Mental Disorders 0.010 1.000 1 2010 2010