GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Tetralogy of Fallot ×
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: rs115099192
rs115099192 		0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 1 2010 2010
dbSNP: rs387906769
rs387906769 		0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 1 2010 2010
dbSNP: rs56208331
rs56208331 		0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 1 2009 2009
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: 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: 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: rs4841587
rs4841587 		1.000 0.080 8 11756666 non coding transcript exon variant G/T snv 0.37
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4841588
rs4841588 		1.000 0.080 8 11756716 non coding transcript exon variant G/T snv 0.19
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs771792843
rs771792843 		1.000 0.080 8 11749060 missense variant C/T snv 4.0E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs804280
rs804280 		0.882 0.120 8 11755189 intron variant C/A;G snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015