rs587777710, GATA6

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.
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
10 0.807 0.160 18 22171856 stop gained G/T snv 0.700 0
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
31 0.807 0.160 18 22171856 stop gained G/T snv 0.710 1.000 1 2014 2014
Congenital malrotation of intestine
CUI: C0221210
Disease: Congenital malrotation of intestine
5 0.807 0.160 18 22171856 stop gained G/T snv 0.010 1.000 1 2014 2014
Gastrointestinal malrotation
CUI: C3808410
Disease: Gastrointestinal malrotation
2 0.807 0.160 18 22171856 stop gained G/T snv 0.700 1.000 1 2014 2014
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.807 0.160 18 22171856 stop gained G/T snv 0.700 1.000 1 2014 2014
Totally absent pericardium
CUI: C0345140
Disease: Totally absent pericardium
1 0.807 0.160 18 22171856 stop gained G/T snv 0.710 1.000 1 2014 2014
VENTRICULAR SEPTAL DEFECT, LARGE
CUI: C0238521
Disease: VENTRICULAR SEPTAL DEFECT, LARGE
1 0.807 0.160 18 22171856 stop gained G/T snv 0.010 1.000 1 2014 2014
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.807 0.160 18 22171856 stop gained G/T snv 0.700 1.000 1 2014 2014