TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
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: rs9960767
rs9960767 		0.925 0.040 18 55487771 intron variant A/C;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.880 1.000 10 2009 2018
dbSNP: rs121909120
rs121909120 		1.000 0.200 18 55228988 missense variant G/A;T snv
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.810 1.000 9 2007 2018
dbSNP: rs17512836
rs17512836 		0.925 0.040 18 55527730 intron variant T/C snv 2.2E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.810 1.000 2 2011 2014
dbSNP: rs613872
rs613872 		0.851 0.120 18 55543071 intron variant G/T snv 0.88
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 15 2010 2019
dbSNP: rs121909121
rs121909121 		1.000 0.200 18 55228987 missense variant C/T snv
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 8 2007 2014
dbSNP: rs121909123
rs121909123 		1.000 0.200 18 55228993 missense variant C/G;T snv
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 8 2007 2014
dbSNP: rs11152369
rs11152369 		0.851 0.040 18 55399097 intron variant A/C snv 6.3E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs1261117
rs1261117 		1.000 0.040 18 55282426 intron variant T/C snv 0.11
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs1452787
rs1452787 		0.827 0.160 18 55539976 intron variant A/G snv 0.24
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs17594526
rs17594526 		1.000 0.040 18 55391007 intron variant C/T snv 6.4E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.800 1.000 1 2009 2009
dbSNP: rs1057521070
rs1057521070 		0.925 0.200 18 55228999 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 2007 2017
dbSNP: rs1057521070
rs1057521070 		0.925 0.200 18 55228999 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 2007 2017
dbSNP: rs1555710171
rs1555710171 		1.000 18 55228904 inframe deletion GTCTGGGGCTTG/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 2007 2017
dbSNP: rs1555710171
rs1555710171 		1.000 18 55228904 inframe deletion GTCTGGGGCTTG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 2007 2017
dbSNP: rs1555721921
rs1555721921 		0.925 0.200 18 55234546 splice donor variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 2007 2017
dbSNP: rs1555721921
rs1555721921 		0.925 0.200 18 55234546 splice donor variant A/C;G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 2007 2017
dbSNP: rs1555764170
rs1555764170 		18 55254579 frameshift variant CC/- del
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 22 2007 2017
dbSNP: rs1555778204
rs1555778204 		1.000 18 55261525 stop gained C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 2007 2017
dbSNP: rs1555778204
rs1555778204 		1.000 18 55261525 stop gained C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 2007 2017
dbSNP: rs1555797248
rs1555797248 		1.000 18 55275735 frameshift variant C/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 2007 2017
dbSNP: rs9636107
rs9636107 		1.000 0.040 18 55532886 intron variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 6 2014 2019
dbSNP: rs1568303352
rs1568303352 		1.000 0.200 18 55228885 missense variant G/A snv
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 4 2009 2012
dbSNP: rs878853149
rs878853149 		0.925 0.240 18 55350388 stop gained G/A snv
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2012 2017
dbSNP: rs12967143
rs12967143 		1.000 0.040 18 55431781 intron variant G/C snv 0.55
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 2 2018 2019
dbSNP: rs1568303086
rs1568303086 		0.882 0.320 18 55228877 missense variant C/A snv
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2011 2014