rs747507019, LDLR

N. diseases: 3
Disease: Hyperlipoproteinemia Type IIa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.810 GeneticVariation BEFREE In addition, the structure of PCSK9DeltaC bound to EGF(AB)(H306Y), a mutant associated with familial hypercholesterolemia (FH), reveals that the Tyr-306 side chain forms a hydrogen bond with PCSK9 Asp-374, thus mimicking His-306 in the low pH conformation. 19001363 2009
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.810 GeneticVariation UNIPROT
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.810 GeneticVariation CLINVAR