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: rs6561334
rs6561334
13 46849989 intron variant G/A snv 6.4E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs6561334
rs6561334
13 46849989 intron variant G/A snv 6.4E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs6561334
rs6561334
13 46849989 intron variant G/A snv 6.4E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs6561334
rs6561334
13 46849989 intron variant G/A snv 6.4E-02
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
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
dbSNP: rs2070040
rs2070040
13 46893491 intron variant G/A snv 0.37
CUI: C0235162
Disease: Difficulty sleeping
Difficulty sleeping
Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs2296972
rs2296972
0.925 0.080 13 46854336 intron variant A/C snv 0.70
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
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: rs2296972
rs2296972
0.925 0.080 13 46854336 intron variant A/C snv 0.70
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2296972
rs2296972
0.925 0.080 13 46854336 intron variant A/C snv 0.70
CUI: C0030319
Disease: Panic Disorder
Panic Disorder
Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs2770292
rs2770292
1.000 0.040 13 46860971 intron variant C/G snv 0.18
CUI: C0030319
Disease: Panic Disorder
Panic Disorder
Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs3125
rs3125
0.925 0.080 13 46834716 3 prime UTR variant C/G;T snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
Mental Disorders 0.010 1.000 1 2019 2019