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: 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: 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: 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: rs387906769
rs387906769
0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05
CUI: C3280777
Disease: VENTRICULAR SEPTAL DEFECT 1
VENTRICULAR SEPTAL DEFECT 1
0.700 0