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.
Pyruvate Carboxylase Deficiency Disease
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
33 0.925 0.160 12 10882273 missense variant G/A snv 4.0E-05 3.5E-05 0.010 1.000 1 2012 2012
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
43 0.925 0.160 12 10882273 missense variant G/A snv 4.0E-05 3.5E-05 0.010 1.000 1 2018 2018