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: rs1386482
rs1386482 		0.827 0.080 12 72018792 intron variant T/G snv 0.52
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1386482
rs1386482 		0.827 0.080 12 72018792 intron variant T/G snv 0.52
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1386483
rs1386483 		0.790 0.080 12 72018714 intron variant T/C snv 0.53
CUI: C0564567
Disease: Impulsive character (finding)
Impulsive character (finding) 		0.010 1.000 1 2012 2012
dbSNP: rs1386483
rs1386483 		0.790 0.080 12 72018714 intron variant T/C snv 0.53
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 2009 2009
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: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs1386483
rs1386483 		0.790 0.080 12 72018714 intron variant T/C snv 0.53
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1386483
rs1386483 		0.790 0.080 12 72018714 intron variant T/C snv 0.53
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6 		Mental Disorders 0.010 1.000 1 2009 2009
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: rs1386483
rs1386483 		0.790 0.080 12 72018714 intron variant T/C snv 0.53
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1386483
rs1386483 		0.790 0.080 12 72018714 intron variant T/C snv 0.53
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1386486
rs1386486 		0.827 0.080 12 72018440 intron variant A/G snv 0.53
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1386486
rs1386486 		0.827 0.080 12 72018440 intron variant A/G snv 0.53
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1386486
rs1386486 		0.827 0.080 12 72018440 intron variant A/G snv 0.53
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 2009 2009
dbSNP: rs1386486
rs1386486 		0.827 0.080 12 72018440 intron variant A/G snv 0.53
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1386486
rs1386486 		0.827 0.080 12 72018440 intron variant A/G snv 0.53
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
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: 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: 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: rs1386494
rs1386494 		0.790 0.120 12 71958763 intron variant T/C;G snv 0.82
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
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: rs139896303
rs139896303 		1.000 0.040 12 71972584 missense variant G/A snv 1.2E-04 5.6E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs1473473
rs1473473 		0.925 0.080 12 72010598 intron variant C/A;T snv 0.81
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs1487275
rs1487275 		1.000 0.040 12 72016512 intron variant C/A snv 0.71
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs17110563
rs17110563 		0.827 0.080 12 71972526 missense variant C/T snv 1.2E-03 1.1E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012