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: 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: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder
Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs4570625
rs4570625
0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder
Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1386483
rs1386483
0.790 0.080 12 72018714 intron variant T/C snv 0.53
CUI: C0030319
Disease: Panic Disorder
Panic Disorder
Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs1386483
rs1386483
0.790 0.080 12 72018714 intron variant T/C snv 0.53
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.010 1.000 1 2007 2007
dbSNP: rs1386494
rs1386494
0.790 0.120 12 71958763 intron variant T/C;G snv 0.82
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.010 1.000 1 2007 2007
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: rs4641527
rs4641527
1.000 0.040 12 71940903 intron variant G/T snv 0.33
CUI: C0009086
Disease: Cluster B personality disorder
Cluster B personality disorder
Mental Disorders 0.010 1.000 1 2007 2007
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: rs120074176
rs120074176
1.000 12 71979053 missense variant C/T snv 2.4E-05
ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7
0.800 1.000 1 2008 2008
dbSNP: rs1386494
rs1386494
0.790 0.120 12 71958763 intron variant T/C;G snv 0.82
CUI: C0086769
Disease: Panic Attacks
Panic Attacks
Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs17110563
rs17110563
0.827 0.080 12 71972526 missense variant C/T snv 1.2E-03 1.1E-03
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs17110563
rs17110563
0.827 0.080 12 71972526 missense variant C/T snv 1.2E-03 1.1E-03
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1
Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs17110563
rs17110563
0.827 0.080 12 71972526 missense variant C/T snv 1.2E-03 1.1E-03
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs17110563
rs17110563
0.827 0.080 12 71972526 missense variant C/T snv 1.2E-03 1.1E-03
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4
Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs17110563
rs17110563
0.827 0.080 12 71972526 missense variant C/T snv 1.2E-03 1.1E-03
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6
Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs4290270
rs4290270
0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs7963720
rs7963720
1.000 0.080 12 71972406 intron variant C/G;T snv
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2008 2008
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: rs4570625
rs4570625
0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27
Attention deficit hyperactivity disorder
Mental Disorders 0.020 1.000 2 2005 2009
dbSNP: rs1386482
rs1386482
0.827 0.080 12 72018792 intron variant T/G snv 0.52
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4
Mental Disorders 0.010 1.000 1 2009 2009