rs2294213, PLTP

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.
Cholesteryl Ester Transfer Protein Deficiency
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
5 0.925 0.080 20 45912053 intron variant C/A;G snv 0.010 1.000 1 2008 2008
Hypoalphalipoproteinemias
CUI: C0473527
Disease: Hypoalphalipoproteinemias
7 0.925 0.080 20 45912053 intron variant C/A;G snv 0.010 1.000 1 2008 2008