GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 4 ×
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: 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: 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: 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