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: rs147860174
rs147860174 		8 11750261 intron variant G/A snv 5.3E-03 5.4E-03
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554498312
rs1554498312 		8 11754991 intron variant T/C snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554498708
rs1554498708 		8 11756909 non coding transcript exon variant G/A snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs17153755
rs17153755 		1.000 0.120 8 11753991 intron variant C/G snv 0.34
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
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: 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: rs3729851
rs3729851 		8 11755333 intron variant G/A snv 9.3E-02
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
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
dbSNP: rs3735814
rs3735814 		8 11749887 intron variant G/A snv 0.54
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs3735819
rs3735819 		8 11748803 intron variant T/C snv 0.80
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs549543886
rs549543886 		8 11759643 3 prime UTR variant T/C snv 2.2E-03
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6983129
rs6983129 		8 11733627 intron variant C/A snv 0.52
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs745379
rs745379 		8 11758186 intron variant A/G snv 0.39
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs804280
rs804280 		0.882 0.120 8 11755189 intron variant C/A;G snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
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: rs804290
rs804290 		8 11759327 3 prime UTR variant G/A;C snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1282433424
rs1282433424 		0.925 0.080 8 11755094 missense variant C/T snv
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1282433424
rs1282433424 		0.925 0.080 8 11755094 missense variant C/T snv
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs387906769
rs387906769 		0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05
CUI: C3280777
Disease: VENTRICULAR SEPTAL DEFECT 1
VENTRICULAR SEPTAL DEFECT 1 		0.700 0
dbSNP: rs56208331
rs56208331 		0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs864321698
rs864321698 		8 11708335 missense variant C/A;T snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs864321699
rs864321699 		1.000 0.080 8 11708337 missense variant G/A;C snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs864321699
rs864321699 		1.000 0.080 8 11708337 missense variant G/A;C snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs864321700
rs864321700 		8 11708695 missense variant A/T snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0