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 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 1.000 15 1995 2016
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 1.000 10 1995 2016
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 0
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 0
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 0