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: rs1386494
rs1386494
0.790 0.120 12 71958763 intron variant T/C;G snv 0.82
CUI: C0029121
Disease: Oppositional Defiant Disorder
Oppositional Defiant Disorder
Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs4570625
rs4570625
0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27
CUI: C0029121
Disease: Oppositional Defiant Disorder
Oppositional Defiant Disorder
Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs4760820
rs4760820
0.925 0.040 12 72003216 intron variant C/G snv 0.29
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs7305115
rs7305115
0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56
CUI: C0029121
Disease: Oppositional Defiant Disorder
Oppositional Defiant Disorder
Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs7954758
rs7954758
1.000 0.040 12 71942014 intron variant A/G snv 9.6E-02
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.010 1.000 1 2016 2016
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: 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
dbSNP: rs7305115
rs7305115
0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
Mental Disorders 0.020 1.000 2 2014 2015
dbSNP: rs11178997
rs11178997
0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs11178997
rs11178997
0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.010 1.000 1 2015 2015
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: rs1386497
rs1386497
1.000 12 71998510 intron variant C/A snv 0.83
CUI: C3496069
Disease: cocaine use
cocaine use
0.010 1.000 1 2015 2015
dbSNP: rs17110690
rs17110690
0.925 0.080 12 72014217 intron variant G/A snv 0.19
Attention deficit hyperactivity disorder
Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1843809
rs1843809
0.851 0.080 12 71954918 intron variant G/T snv 0.77
CUI: C0424166
Disease: Social Anxiety
Social Anxiety
Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs1843809
rs1843809
0.851 0.080 12 71954918 intron variant G/T snv 0.77
CUI: C0003467
Disease: Anxiety
Anxiety
Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs1843809
rs1843809
0.851 0.080 12 71954918 intron variant G/T snv 0.77
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs4290270
rs4290270
0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs4290270
rs4290270
0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55
CUI: C0003467
Disease: Anxiety
Anxiety
Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs4570625
rs4570625
0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
Mental Disorders 0.010 1.000 1 2015 2015
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: rs7305115
rs7305115
0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56
CUI: C0011570
Disease: Mental Depression
Mental Depression
Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015