rs28942084, LDLR

N. diseases: 11
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 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.880 1.000 38 1989 2018
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.780 1.000 26 1989 2016
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.710 1.000 12 1989 2015
Arcus Senilis
CUI: C0003742
Disease: Arcus Senilis
23 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.700 0
Eyelid Xanthoma
CUI: C0155210
Disease: Eyelid Xanthoma
32 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.700 0
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.700 0
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.700 0
Xanthoma tendinosum
CUI: C0221253
Disease: Xanthoma tendinosum
22 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.700 0
Familial hypercholesterolemia - heterozygous
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
34 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.010 1.000 1 2004 2004
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.010 1.000 1 2000 2000