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.
Familial hypobetalipoproteinemia
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
24 0.925 0.080 1 62604068 missense variant A/C snv 0.010 1.000 1 2015 2015
Hypobetalipoproteinemias
CUI: C0020597
Disease: Hypobetalipoproteinemias
11 0.925 0.080 1 62604068 missense variant A/C snv 0.010 1.000 1 2015 2015