rs2228671, LDLR

N. diseases: 14
Disease: Hypercholesterolemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
0.010 GeneticVariation BEFREE Three mutations were pathogenic (APOB p.R3527Q) or likely pathogenic (LDLR p.C27W, LDLR p.P526S) for hypercholesterolaemia, while the others were either benign or of unknown significance. 27497240 2016