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 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05 0.840 1.000 35 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05 0.760 1.000 22 1989 2016
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05 0.700 0
Familial hypercholesterolemia - heterozygous
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
34 0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 2014 2014
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 1995 1995
Low density lipoprotein receptor mutation
CUI: C2919414
Disease: Low density lipoprotein receptor mutation
3 0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 2011 2011