rs121908027, LDLR

N. diseases: 5
Disease: Hypercholesterolemia, Familial ×
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
0.700 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. 22698793 2012
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306 2010
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect. 18096825 2008
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia. 17539906 2007
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia. 10208479 1999
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias. 9654205 1998
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias. 9654205 1998
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia. 7649546 1995
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. 1867200 1991
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. 1867200 1991
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. 2088165 1990