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 0.882 0.080 19 11113643 stop gained C/A;G snv 4.0E-06 0.700 1.000 1 1994 1994
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.882 0.080 19 11113643 stop gained C/A;G snv 4.0E-06 0.700 0
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.882 0.080 19 11113643 stop gained C/A;G snv 4.0E-06 0.700 0