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 0.160 19 11111514 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 8 1992 2012
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.851 0.160 19 11111514 missense variant A/C;G;T snv 4.0E-06 0.700 0
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.851 0.160 19 11111514 missense variant A/C;G;T snv 4.0E-06 0.700 0
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.851 0.160 19 11111514 missense variant A/C;G;T snv 4.0E-06 0.700 0
Xanthoma tendinosum
CUI: C0221253
Disease: Xanthoma tendinosum
22 0.851 0.160 19 11111514 missense variant A/C;G;T snv 4.0E-06 0.700 0