rs121908029, LDLR

N. diseases: 13
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 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.800 1.000 31 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 1.000 40 1990 2017
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 1.000 15 1990 2016
Carotid artery occlusion
CUI: C0265101
Disease: Carotid artery occlusion
1 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 0
Carotid Artery, Internal, Dissection
CUI: C0751815
Disease: Carotid Artery, Internal, Dissection
1 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 0
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 0
Dissection of aorta
CUI: C0340643
Disease: Dissection of aorta
16 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 0
Dissection of carotid artery
CUI: C0338585
Disease: Dissection of carotid artery
1 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 0
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 0
Carotid Atherosclerosis
CUI: C0577631
Disease: Carotid Atherosclerosis
79 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.010 1.000 1 2006 2006
LDLR mutation
CUI: C3888506
Disease: LDLR mutation
21 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.010 1.000 1 2006 2006
Xanthomatosis
CUI: C0043325
Disease: Xanthomatosis
10 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.010 1.000 1 2006 2006