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: C4285807
Disease: Behavioral and psychological symptoms of dementia
Behavioral and psychological symptoms of dementia 		0.030 1.000 3 2004 2017
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C1868717
Disease: Behavioural and psychiatric symptoms of dementia
Behavioural and psychiatric symptoms of dementia 		0.010 1.000 1 2017 2017
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.050 1.000 5 2003 2014
dbSNP: rs643627
rs643627 		1.000 0.040 13 46854476 intron variant T/C snv 0.27
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2018 2018
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: rs6305
rs6305 		0.882 0.040 13 46892487 synonymous variant G/A snv 1.8E-02 1.7E-02
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs6314
rs6314 		0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs9567747
rs9567747 		1.000 0.040 13 46886479 intron variant A/G snv 0.19
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2296972
rs2296972 		0.925 0.080 13 46854336 intron variant A/C snv 0.70
CUI: C0006370
Disease: Bulimia
Bulimia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0006868
Disease: Cannabis Abuse
Cannabis Abuse 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C3160814
Disease: Cannabis use
Cannabis use 		0.010 1.000 1 2012 2012
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs7997012
rs7997012 		0.807 0.080 13 46837850 intron variant A/G snv 0.69
CUI: C0008060
Disease: child abuse behavior
child abuse behavior 		0.010 1.000 1 2013 2013
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: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0015674
Disease: Chronic Fatigue Syndrome
Chronic Fatigue Syndrome 		Infections; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0015674
Disease: Chronic Fatigue Syndrome
Chronic Fatigue Syndrome 		Infections; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs6311
rs6311 		0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6561333
rs6561333 		1.000 0.080 13 46846177 intron variant T/C snv 0.60
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2003 2003
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: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C3665464
Disease: Dementia due to Alzheimer's disease (disorder)
Dementia due to Alzheimer's disease (disorder) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017