GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
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: rs387906816
rs387906816 		0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.720 1.000 3 2010 2014
dbSNP: rs387906818
rs387906818 		0.882 0.120 18 22181516 missense variant C/T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 1 2014 2014
dbSNP: rs387906814
rs387906814 		1.000 0.080 18 22171736 missense variant C/G snv 6.6E-05 6.7E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2010 2010
dbSNP: rs368858287
rs368858287 		1.000 0.080 18 22200684 missense variant G/C;T snv 1.4E-05
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014