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.
Congenital atresia of pulmonary valve
3 0.882 0.120 2 47073816 stop gained C/T snv 0.700 1.000 1 2016 2016
Intestinal Atresia
CUI: C0021828
Disease: Intestinal Atresia
2 0.882 0.120 2 47073816 stop gained C/T snv 0.700 1.000 1 2016 2016
Multiple gastrointestinal atresias (disorder)
23 0.882 0.120 2 47073816 stop gained C/T snv 0.700 1.000 1 2016 2016
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.882 0.120 2 47073816 stop gained C/T snv 0.700 1.000 1 2016 2016