GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: Atrial septal defect 2 ×
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: 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: 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: 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: 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