TPH2, tryptophan hydroxylase 2, 121278

N. diseases: 137; N. variants: 37
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: rs120074175
rs120074175
0.827 0.080 12 72031544 missense variant G/A snv 1.2E-05 7.0E-06
UNIPOLAR DEPRESSION, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs17110563
rs17110563
0.827 0.080 12 71972526 missense variant C/T snv 1.2E-03 1.1E-03
BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs11179000
rs11179000
0.925 0.040 12 71944848 intron variant A/T snv 0.31
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.010 < 0.001 1 2006 2006
dbSNP: rs1386494
rs1386494
0.790 0.120 12 71958763 intron variant T/C;G snv 0.82
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder
Mental Disorders 0.010 < 0.001 1 2015 2015
dbSNP: rs1386494
rs1386494
0.790 0.120 12 71958763 intron variant T/C;G snv 0.82
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs4290270
rs4290270
0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55
CUI: C0033139
Disease: Primary Insomnia
Primary Insomnia
Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs4290270
rs4290270
0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
Behavior and Behavior Mechanisms 0.010 < 0.001 1 2018 2018
dbSNP: rs4341581
rs4341581
1.000 0.040 12 71941293 intron variant G/T snv 0.97
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.010 < 0.001 1 2006 2006
dbSNP: rs4565946
rs4565946
0.827 0.080 12 71942989 intron variant C/A;G;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.010 < 0.001 1 2007 2007
dbSNP: rs4570625
rs4570625
0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.010 < 0.001 1 2007 2007
dbSNP: rs4760816
rs4760816
0.925 0.120 12 71978821 intron variant C/T snv 0.58
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs4760816
rs4760816
0.925 0.120 12 71978821 intron variant C/T snv 0.58
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder
Mental Disorders 0.010 < 0.001 1 2015 2015
dbSNP: rs11178997
rs11178997
0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
Mental Disorders 0.030 0.667 3 2012 2019
dbSNP: rs120074175
rs120074175
0.827 0.080 12 72031544 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
Mental Disorders 0.030 1.000 3 2006 2015
dbSNP: rs120074175
rs120074175
0.827 0.080 12 72031544 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.030 1.000 3 2006 2015
dbSNP: rs4570625
rs4570625
0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.030 1.000 3 2012 2017
dbSNP: rs11178997
rs11178997
0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12
Attention deficit hyperactivity disorder
Mental Disorders 0.020 1.000 2 2005 2009
dbSNP: rs1386494
rs1386494
0.790 0.120 12 71958763 intron variant T/C;G snv 0.82
CUI: C0030319
Disease: Panic Disorder
Panic Disorder
Mental Disorders 0.020 1.000 2 2007 2008
dbSNP: rs1473473
rs1473473
0.925 0.080 12 72010598 intron variant C/A;T snv 0.81
CUI: C0232600
Disease: Self-induced vomiting
Self-induced vomiting
Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2011 2013
dbSNP: rs1473473
rs1473473
0.925 0.080 12 72010598 intron variant C/A;T snv 0.81
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
Mental Disorders 0.020 1.000 2 2011 2013
dbSNP: rs1473473
rs1473473
0.925 0.080 12 72010598 intron variant C/A;T snv 0.81
CUI: C0013473
Disease: Eating Disorders
Eating Disorders
Mental Disorders 0.020 1.000 2 2011 2013
dbSNP: rs17110747
rs17110747
0.882 0.120 12 72032174 3 prime UTR variant G/A snv 0.12
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.020 1.000 2 2009 2012
dbSNP: rs4290270
rs4290270
0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.020 1.000 2 2017 2018
dbSNP: rs4570625
rs4570625
0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
Mental Disorders 0.020 1.000 2 2013 2015
dbSNP: rs4570625
rs4570625
0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27
CUI: C0003467
Disease: Anxiety
Anxiety
Behavior and Behavior Mechanisms 0.020 1.000 2 2013 2015