GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Ventricular Septal Defects ×
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: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 1.000 2 2011 2012
dbSNP: rs56208331
rs56208331 		0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 0.500 2 2009 2010
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: rs146017816
rs146017816 		1.000 8 11758471 missense variant C/G;T snv 7.2E-05; 1.6E-05
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs368489876
rs368489876 		1.000 8 11757012 missense variant G/A snv 4.4E-05 2.1E-05
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs387906770
rs387906770 		1.000 8 11708439 splice acceptor variant C/A;T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4841587
rs4841587 		1.000 0.080 8 11756666 non coding transcript exon variant G/T snv 0.37
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		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: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs540578824
rs540578824 		8 11708800 missense variant C/G;T snv 2.1E-05
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs55633527
rs55633527 		1.000 0.080 8 11758378 missense variant C/T snv 3.6E-03 3.2E-03
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs804280
rs804280 		0.882 0.120 8 11755189 intron variant C/A;G snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015