rs1057518647, 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.
Acanthocytosis With Hypobetalipoproteinemia
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
17 0.925 0.080 2 21019728 frameshift variant CCCGGTC/- delins 0.700 0
Hypobetalipoproteinemias
CUI: C0020597
Disease: Hypobetalipoproteinemias
11 0.925 0.080 2 21019728 frameshift variant CCCGGTC/- delins 0.700 0