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 defect
CUI: C1853238
Disease: Conotruncal defect
45 0.925 0.080 22 38436107 intron variant G/A snv 2.7E-02 0.700 1.000 1 2014 2014
CONOTRUNCAL HEART MALFORMATIONS (disorder)
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
22 0.925 0.080 22 38436107 intron variant G/A snv 2.7E-02 0.700 1.000 1 2014 2014