TPH1, tryptophan hydroxylase 1, 7166

N. diseases: 127; N. variants: 11
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: rs211105
rs211105 		1.000 11 18033757 intron variant T/G snv 0.19
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2015 2018
dbSNP: rs211105
rs211105 		1.000 11 18033757 intron variant T/G snv 0.19
CUI: C1262211
Disease: Diarrhoea predominant irritable bowel syndrome
Diarrhoea predominant irritable bowel syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs211105
rs211105 		1.000 11 18033757 intron variant T/G snv 0.19
CUI: C0013395
Disease: Dyspepsia
Dyspepsia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs211105
rs211105 		1.000 11 18033757 intron variant T/G snv 0.19
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		0.010 1.000 1 2018 2018
dbSNP: rs591556
rs591556 		11 18039853 intron variant T/C snv 0.78
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs623580
rs623580 		11 18042430 upstream gene variant A/T snv 0.65
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs749865093
rs749865093 		11 18029360 missense variant C/T snv 3.2E-05
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs2108977
rs2108977 		1.000 0.040 11 18019049 3 prime UTR variant T/C snv 0.47
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs56151798
rs56151798 		1.000 0.040 11 18022863 synonymous variant A/G snv 6.0E-03 6.4E-03
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		Mental Disorders 0.010 1.000 1 1999 1999
dbSNP: rs684302
rs684302 		1.000 0.040 11 18038806 intron variant C/T snv 0.36
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1799913
rs1799913 		0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1799913
rs1799913 		0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1799913
rs1799913 		0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1799913
rs1799913 		0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1799913
rs1799913 		0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1173546708
rs1173546708 		0.851 0.120 11 18040661 synonymous variant G/A snv 4.0E-06
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs1173546708
rs1173546708 		0.851 0.120 11 18040661 synonymous variant G/A snv 4.0E-06
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs1173546708
rs1173546708 		0.851 0.120 11 18040661 synonymous variant G/A snv 4.0E-06
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1173546708
rs1173546708 		0.851 0.120 11 18040661 synonymous variant G/A snv 4.0E-06
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs1173546708
rs1173546708 		0.851 0.120 11 18040661 synonymous variant G/A snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs1800532
rs1800532 		0.763 0.160 11 18026269 intron variant G/T snv 0.33
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.040 1.000 4 2011 2019
dbSNP: rs1800532
rs1800532 		0.763 0.160 11 18026269 intron variant G/T snv 0.33
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.020 1.000 2 2012 2012
dbSNP: rs1800532
rs1800532 		0.763 0.160 11 18026269 intron variant G/T snv 0.33
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.020 1.000 2 2012 2019
dbSNP: rs10488682
rs10488682 		1.000 0.160 11 18040935 5 prime UTR variant T/A snv 0.19
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10488682
rs10488682 		1.000 0.160 11 18040935 5 prime UTR variant T/A snv 0.19
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019