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.
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.925 0.080 19 11113599 frameshift variant GC/A delins 0.700 1.000 1 2004 2004
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.925 0.080 19 11113599 frameshift variant GC/A delins 0.010 1.000 1 1998 1998