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 0.827 0.160 19 11113348 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 4 2001 2015
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.827 0.160 19 11113348 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.700 0
Carotid Atherosclerosis
CUI: C0577631
Disease: Carotid Atherosclerosis
79 0.827 0.160 19 11113348 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
LDLR mutation
CUI: C3888506
Disease: LDLR mutation
21 0.827 0.160 19 11113348 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
Xanthomatosis
CUI: C0043325
Disease: Xanthomatosis
10 0.827 0.160 19 11113348 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006