rs1131692193, LDLR

N. diseases: 3
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 result
CUI: C1522133
Disease: Hypercholesterolemia result
415 1.000 0.080 19 11105424 stop gained CGAAGATGGCTCGG/- delins 0.700 0
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 1.000 0.080 19 11105424 stop gained CGAAGATGGCTCGG/- delins 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 1.000 0.080 19 11105424 stop gained CGAAGATGGCTCGG/- delins 0.700 0