rs879255196, LDLR

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.710 GeneticVariation BEFREE Mutation p.L799R should be considered a member of a separate class of FH-causing mutations that affects the insertion of the LDLR in the cell membrane. 26220972 2015
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.710 GeneticVariation BEFREE Mutation p.L799R should be considered a member of a separate class of FH-causing mutations that affects the insertion of the LDLR in the cell membrane. 26220972 2015
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.710 GeneticVariation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417 2011
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.710 GeneticVariation CLINVAR
Xanthoma tendinosum
CUI: C0221253
Disease: Xanthoma tendinosum
0.700 GeneticVariation CLINVAR
Arcus Senilis
CUI: C0003742
Disease: Arcus Senilis
0.700 GeneticVariation CLINVAR
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
0.700 GeneticVariation CLINVAR
Eyelid Xanthoma
CUI: C0155210
Disease: Eyelid Xanthoma
0.700 GeneticVariation CLINVAR