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: 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: C0027849
Disease: Neuroleptic Malignant Syndrome
Neuroleptic Malignant Syndrome 		Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 1998 1998
dbSNP: rs6314
rs6314 		0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C0027849
Disease: Neuroleptic Malignant Syndrome
Neuroleptic Malignant Syndrome 		Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 1998 1998
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: C1864275
Disease: SCHIZOPHRENIA 6 (disorder)
SCHIZOPHRENIA 6 (disorder) 		0.010 1.000 1 2001 2001
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: C0270549
Disease: Generalized Anxiety Disorder
Generalized Anxiety Disorder 		Mental Disorders 0.010 1.000 1 2001 2001
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2001 2001
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0543891
Disease: Neuroleptic-Induced Tardive Dyskinesia
Neuroleptic-Induced Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2001 2001
dbSNP: rs6314
rs6314 		0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.010 1.000 1 2001 2001
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2002 2002
dbSNP: rs6314
rs6314 		0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2002 2002
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: 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: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0011265
Disease: Presenile dementia
Presenile 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular 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: 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: 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: 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: 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: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2004 2004
dbSNP: rs6313
rs6313 		0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		Digestive System Diseases 0.010 1.000 1 2004 2004
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