rs11547917, 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.
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.807 0.200 19 11107491 stop gained C/A;G;T snv 0.800 1.000 31 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.807 0.200 19 11107491 stop gained C/A;G;T snv 0.700 1.000 7 1992 2010
Arcus Senilis
CUI: C0003742
Disease: Arcus Senilis
23 0.807 0.200 19 11107491 stop gained C/A;G;T snv 0.700 0
Eyelid Xanthoma
CUI: C0155210
Disease: Eyelid Xanthoma
32 0.807 0.200 19 11107491 stop gained C/A;G;T snv 0.700 0
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.807 0.200 19 11107491 stop gained C/A;G;T snv 0.700 0
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.807 0.200 19 11107491 stop gained C/A;G;T snv 0.700 0
Xanthoma tendinosum
CUI: C0221253
Disease: Xanthoma tendinosum
22 0.807 0.200 19 11107491 stop gained C/A;G;T snv 0.700 0