rs104894073, GATA4

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Atrial septal defect 2
CUI: C1842778
Disease: Atrial septal defect 2
9 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.800 1.000 7 2003 2016
VENTRICULAR SEPTAL DEFECT 1
CUI: C3280777
Disease: VENTRICULAR SEPTAL DEFECT 1
7 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.800 1.000 4 2009 2012
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.020 1.000 2 2012 2019
Pulmonary Valve Stenosis
CUI: C0034089
Disease: Pulmonary Valve Stenosis
2 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.020 1.000 2 2012 2019
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.020 1.000 2 2011 2012
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019