rs879254965, LDLR

N. diseases: 7
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 0.827 0.200 19 11116140 missense variant G/A;C;T snv 0.710 1 2019 2019
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.827 0.200 19 11116140 missense variant G/A;C;T snv 0.700 1.000 3 2008 2015
Arcus Senilis
CUI: C0003742
Disease: Arcus Senilis
23 0.827 0.200 19 11116140 missense variant G/A;C;T snv 0.700 0
Eyelid Xanthoma
CUI: C0155210
Disease: Eyelid Xanthoma
32 0.827 0.200 19 11116140 missense variant G/A;C;T snv 0.700 0
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.827 0.200 19 11116140 missense variant G/A;C;T snv 0.700 0
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.827 0.200 19 11116140 missense variant G/A;C;T snv 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.827 0.200 19 11116140 missense variant G/A;C;T snv 0.700 0