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.
CONOTRUNCAL HEART MALFORMATIONS (disorder)
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
22 0.882 0.080 8 105788864 missense variant A/G snv 4.5E-04 4.7E-04 0.700 0
Conotruncal defect
CUI: C1853238
Disease: Conotruncal defect
45 0.882 0.080 8 105788864 missense variant A/G snv 4.5E-04 4.7E-04 0.010 1.000 1 2011 2011
Double Outlet Right Ventricle
CUI: C0013069
Disease: Double Outlet Right Ventricle
16 0.882 0.080 8 105788864 missense variant A/G snv 4.5E-04 4.7E-04 0.010 1.000 1 2011 2011