GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
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: rs104894073
rs104894073 		0.827 0.080 8 11750213 missense variant G/A;C;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs104894073
rs104894073 		0.827 0.080 8 11750213 missense variant G/A;C;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2019 2019
dbSNP: rs17153694
rs17153694 		0.851 0.160 8 11730972 intron variant C/T snv 0.12
CUI: C0152424
Disease: Common ventricle
Common ventricle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs17153694
rs17153694 		0.851 0.160 8 11730972 intron variant C/T snv 0.12
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs17153694
rs17153694 		0.851 0.160 8 11730972 intron variant C/T snv 0.12
CUI: C3274516
Disease: Single Ventricle Defect
Single Ventricle Defect 		0.010 1.000 1 2019 2019
dbSNP: rs28447194
rs28447194 		8 11685081 intron variant G/A snv 9.1E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs368418329
rs368418329 		0.925 0.120 8 11708019 5 prime UTR variant G/T snv 5.9E-03
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs368418329
rs368418329 		0.925 0.120 8 11708019 5 prime UTR variant G/T snv 5.9E-03
CUI: C3495549
Disease: Patent ductus arteriosus - persisting type
Patent ductus arteriosus - persisting type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs368418329
rs368418329 		0.925 0.120 8 11708019 5 prime UTR variant G/T snv 5.9E-03
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs56166237
rs56166237 		0.882 0.120 8 11708411 missense variant G/T snv 3.6E-03 2.0E-03
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs56166237
rs56166237 		0.882 0.120 8 11708411 missense variant G/T snv 3.6E-03 2.0E-03
CUI: C3495549
Disease: Patent ductus arteriosus - persisting type
Patent ductus arteriosus - persisting type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs56166237
rs56166237 		0.882 0.120 8 11708411 missense variant G/T snv 3.6E-03 2.0E-03
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs748737164
rs748737164 		1.000 0.040 8 11758455 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs804281
rs804281 		8 11754356 intron variant A/G;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2019 2019
dbSNP: rs10112596
rs10112596 		0.925 0.120 8 11722293 intron variant A/G snv 0.83
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs10112596
rs10112596 		0.925 0.120 8 11722293 intron variant A/G snv 0.83
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2018 2018
dbSNP: rs10112596
rs10112596 		0.925 0.120 8 11722293 intron variant A/G snv 0.83
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs11250159
rs11250159 		1.000 0.080 8 11729725 intron variant G/A;T snv
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs115099192
rs115099192 		0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1185861796
rs1185861796 		1.000 0.080 8 11758339 missense variant C/A snv 8.0E-06 7.0E-06
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1185861796
rs1185861796 		1.000 0.080 8 11758339 missense variant C/A snv 8.0E-06 7.0E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs17153694
rs17153694 		0.851 0.160 8 11730972 intron variant C/T snv 0.12
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs36038176
rs36038176 		8 11752486 intron variant C/G;T snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs36038176
rs36038176 		8 11752486 intron variant C/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs3735814
rs3735814 		8 11749887 intron variant G/A snv 0.54
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018