rs879255196, LDLR

N. diseases: 6
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.
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.827 0.120 19 11129519 missense variant T/G snv 0.710 1.000 2 2011 2015
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.827 0.120 19 11129519 missense variant T/G snv 0.710 1.000 1 2015 2015
Arcus Senilis
CUI: C0003742
Disease: Arcus Senilis
23 0.827 0.120 19 11129519 missense variant T/G snv 0.700 0
Eyelid Xanthoma
CUI: C0155210
Disease: Eyelid Xanthoma
32 0.827 0.120 19 11129519 missense variant T/G snv 0.700 0
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.827 0.120 19 11129519 missense variant T/G snv 0.700 0
Xanthoma tendinosum
CUI: C0221253
Disease: Xanthoma tendinosum
22 0.827 0.120 19 11129519 missense variant T/G snv 0.700 0