HTR1A, 5-hydroxytryptamine receptor 1A, 3350

N. diseases: 229; N. variants: 9
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: rs367956927
rs367956927 		1.000 5 63962199 intron variant T/- delins 2.0E-04
CUI: C3553418
Disease: PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT
PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT 		0.700 0
dbSNP: rs1800044
rs1800044 		0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03
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 0.010 1.000 1 1996 1996
dbSNP: rs1800044
rs1800044 		0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 1998 1998
dbSNP: rs1800044
rs1800044 		0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03
CUI: C0027849
Disease: Neuroleptic Malignant Syndrome
Neuroleptic Malignant Syndrome 		Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 1998 1998
dbSNP: rs1800042
rs1800042 		1.000 0.040 5 63960902 missense variant C/A;T snv 8.0E-06; 1.4E-03
CUI: C0852733
Disease: Completed Suicide
Completed Suicide 		0.010 1.000 1 2002 2002
dbSNP: rs1800041
rs1800041 		0.882 0.120 5 63961673 missense variant G/A snv 1.8E-03 5.3E-04
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs1800041
rs1800041 		0.882 0.120 5 63961673 missense variant G/A snv 1.8E-03 5.3E-04
CUI: C3698497
Disease: Axillary web syndrome
Axillary web syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1800041
rs1800041 		0.882 0.120 5 63961673 missense variant G/A snv 1.8E-03 5.3E-04
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2004 2004
dbSNP: rs1800041
rs1800041 		0.882 0.120 5 63961673 missense variant G/A snv 1.8E-03 5.3E-04
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2004 2004
dbSNP: rs6295
rs6295 		0.645 0.200 5 63962738 intron variant C/G snv 0.49
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.070 1.000 7 2008 2019
dbSNP: rs6295
rs6295 		0.645 0.200 5 63962738 intron variant C/G snv 0.49
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.070 1.000 7 2008 2019
dbSNP: rs6295
rs6295 		0.645 0.200 5 63962738 intron variant C/G snv 0.49
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.070 1.000 7 2008 2019
dbSNP: rs6295
rs6295 		0.645 0.200 5 63962738 intron variant C/G snv 0.49
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.030 1.000 3 2008 2016
dbSNP: rs6295
rs6295 		0.645 0.200 5 63962738 intron variant C/G snv 0.49
CUI: C0024517
Disease: Major depression, single episode
Major depression, single episode 		Mental Disorders 0.020 1.000 2 2008 2011
dbSNP: rs1799920
rs1799920 		5 63961656 missense variant C/G;T snv 3.2E-04
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1799920
rs1799920 		5 63961656 missense variant C/G;T snv 3.2E-04
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2008 2008
dbSNP: rs1799921
rs1799921 		5 63961638 missense variant T/C snv 9.4E-03 9.3E-03
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1799921
rs1799921 		5 63961638 missense variant T/C snv 9.4E-03 9.3E-03
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2008 2008
dbSNP: rs1800044
rs1800044 		0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2008 2008
dbSNP: rs1800044
rs1800044 		0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs6295
rs6295 		0.645 0.200 5 63962738 intron variant C/G snv 0.49
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs6295
rs6295 		0.645 0.200 5 63962738 intron variant C/G snv 0.49
CUI: C0025193
Disease: Melancholia
Melancholia 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs6295
rs6295 		0.645 0.200 5 63962738 intron variant C/G snv 0.49
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2008 2008
dbSNP: rs6295
rs6295 		0.645 0.200 5 63962738 intron variant C/G snv 0.49
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.060 1.000 6 2009 2017
dbSNP: rs6295
rs6295 		0.645 0.200 5 63962738 intron variant C/G snv 0.49
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.050 1.000 5 2009 2017