rs139043155, LDLR

N. diseases: 10
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 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.800 1.000 33 1989 2017
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.700 1.000 14 1992 2016
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.700 1.000 12 1992 2015
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.700 1.000 2 1992 1992
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.700 1.000 2 1992 1992
Arcus Senilis
CUI: C0003742
Disease: Arcus Senilis
23 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.700 0
Eyelid Xanthoma
CUI: C0155210
Disease: Eyelid Xanthoma
32 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.700 0
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.700 0
Xanthoma tendinosum
CUI: C0221253
Disease: Xanthoma tendinosum
22 0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 0.700 0