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: 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: rs104894073
rs104894073 		0.827 0.080 8 11750213 missense variant G/A;C;T snv
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 7 2003 2016
dbSNP: rs104894074
rs104894074 		0.925 0.120 8 11708467 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 0.800 1.000 7 2003 2016
dbSNP: rs387906772
rs387906772 		1.000 0.080 8 11755064 missense variant A/G;T snv
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 7 2003 2016
dbSNP: rs56298569
rs56298569 		1.000 0.080 8 11755082 stop gained C/G;T snv
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 7 2003 2016
dbSNP: rs104894073
rs104894073 		0.827 0.080 8 11750213 missense variant G/A;C;T snv
CUI: C3280777
Disease: VENTRICULAR SEPTAL DEFECT 1
VENTRICULAR SEPTAL DEFECT 1 		0.800 1.000 4 2009 2012
dbSNP: rs146017816
rs146017816 		1.000 8 11758471 missense variant C/G;T snv 7.2E-05; 1.6E-05
CUI: C3280777
Disease: VENTRICULAR SEPTAL DEFECT 1
VENTRICULAR SEPTAL DEFECT 1 		0.800 1.000 4 2009 2012
dbSNP: rs368489876
rs368489876 		1.000 8 11757012 missense variant G/A snv 4.4E-05 2.1E-05
CUI: C3280777
Disease: VENTRICULAR SEPTAL DEFECT 1
VENTRICULAR SEPTAL DEFECT 1 		0.800 1.000 4 2009 2012
dbSNP: rs387906769
rs387906769 		0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05
CUI: C3280781
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 4
ATRIOVENTRICULAR SEPTAL DEFECT 4 		0.800 1.000 1 2007 2007
dbSNP: rs398122402
rs398122402 		1.000 8 11748963 missense variant G/A snv
CUI: C3809858
Disease: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE 		0.800 1.000 1 2011 2011
dbSNP: rs115099192
rs115099192 		0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05
CUI: C3280777
Disease: VENTRICULAR SEPTAL DEFECT 1
VENTRICULAR SEPTAL DEFECT 1 		0.800 0
dbSNP: rs115372595
rs115372595 		1.000 8 11756974 missense variant C/T snv 1.6E-03 1.4E-03
CUI: C3280781
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 4
ATRIOVENTRICULAR SEPTAL DEFECT 4 		0.800 0
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: rs387906771
rs387906771 		1.000 0.080 8 11750166 missense variant C/G;T snv
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 7 2003 2016
dbSNP: rs56191129
rs56191129 		1.000 0.080 8 11708590 missense variant G/A;C snv 3.1E-05
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 7 2003 2016
dbSNP: rs777778466
rs777778466 		1.000 0.080 8 11758353 missense variant C/A;T snv 2.4E-05
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 7 2003 2016
dbSNP: rs199922907
rs199922907 		1.000 8 11708329 splice donor variant C/T snv 7.0E-06
CUI: C3280777
Disease: VENTRICULAR SEPTAL DEFECT 1
VENTRICULAR SEPTAL DEFECT 1 		0.700 1.000 4 2009 2012
dbSNP: rs387906770
rs387906770 		1.000 8 11708439 splice acceptor variant C/A;T snv
CUI: C3280777
Disease: VENTRICULAR SEPTAL DEFECT 1
VENTRICULAR SEPTAL DEFECT 1 		0.700 1.000 4 2009 2012
dbSNP: rs1405855570
rs1405855570 		1.000 8 11748917 splice acceptor variant A/G snv 8.0E-06
CUI: C3280781
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 4
ATRIOVENTRICULAR SEPTAL DEFECT 4 		0.700 1.000 2 2003 2004
dbSNP: rs10503425
rs10503425 		8 11748855 intron 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: rs113049875
rs113049875 		8 11755236 intron variant G/A;C;T 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: rs116052854
rs116052854 		8 11757212 intron 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 1.000 1 2017 2017
dbSNP: rs12156163
rs12156163 		8 11757260 intron variant C/G;T 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: rs12458
rs12458 		8 11759731 3 prime UTR variant A/T snv 0.35
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