rs761954844, 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.
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.882 0.120 19 11110697 missense variant G/A;T snv 1.6E-05 0.810 1.000 31 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.882 0.120 19 11110697 missense variant G/A;T snv 1.6E-05 0.710 1.000 7 1998 2012
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.882 0.120 19 11110697 missense variant G/A;T snv 1.6E-05 0.700 0
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.882 0.120 19 11110697 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2019 2019