rs879254960, 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
0.010 GeneticVariation BEFREE The A370T mutation represents the third single-amino acid change of the LDL receptor protein reported so far, which, in a heterozygous state, is not associated with the clinical phenotype of familial hypercholesterolemia. 9512963 1998