rs1226992086, APOB

N. diseases: 2
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 2 21041055 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2003 2003
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.925 0.080 2 21041055 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2003 2003