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 11113337 missense variant C/T snv 2.4E-05 7.0E-06 0.800 1.000 38 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06 0.700 1.000 25 1997 2016
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06 0.700 1.000 14 1997 2017
Eyelid Xanthoma
CUI: C0155210
Disease: Eyelid Xanthoma
32 0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0