rs879254693, LDLR

N. diseases: 7
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 0.807 0.160 19 11107424 missense variant T/A;C;G snv 0.710 1.000 3 2001 2005
Hyperlipoproteinemia Type III
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
24 0.807 0.160 19 11107424 missense variant T/A;C;G snv 0.030 0.667 3 1994 2014
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.807 0.160 19 11107424 missense variant T/A;C;G snv 0.010 1.000 1 1998 1998
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.807 0.160 19 11107424 missense variant T/A;C;G snv 0.010 1.000 1 1998 1998
Hyperkeratosis lenticularis perstans
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
11 0.807 0.160 19 11107424 missense variant T/A;C;G snv 0.010 1.000 1 2001 2001
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.807 0.160 19 11107424 missense variant T/A;C;G snv 0.010 1.000 1 2001 2001
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
169 0.807 0.160 19 11107424 missense variant T/A;C;G snv 0.010 1.000 1 1998 1998