rs140241383, LDLR

N. diseases: 4
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 0.925 0.080 19 11107432 missense variant C/A;T snv 2.8E-05; 3.7E-04 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.925 0.080 19 11107432 missense variant C/A;T snv 2.8E-05; 3.7E-04 0.700 0
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.925 0.080 19 11107432 missense variant C/A;T snv 2.8E-05; 3.7E-04 0.800 1.000 31 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.925 0.080 19 11107432 missense variant C/A;T snv 2.8E-05; 3.7E-04 0.720 1.000 13 1992 2016