rs758194385, LDLR

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.
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.925 0.080 19 11116198 missense variant A/G snv 2.8E-05 7.0E-06 0.800 1.000 32 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.925 0.080 19 11116198 missense variant A/G snv 2.8E-05 7.0E-06 0.700 1.000 5 1998 2013