rs750594245, LPL

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.
Familial hypercholesterolemia - heterozygous
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
34 0.925 0.080 8 19948248 missense variant A/G snv 8.0E-06 0.010 1.000 1 2004 2004
Hyperlipidemia, Familial Combined
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
28 0.925 0.080 8 19948248 missense variant A/G snv 8.0E-06 0.010 1.000 1 2002 2002