rs121908026, LDLR

N. diseases: 6
Disease: Familial hypercholesterolemia - homozygous ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515 2016
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects. 25461735 2015
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. 25647241 2015
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. 22698793 2012
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246 2008
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene. 18263977 2008
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients. 11754108 2002
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia. 8096412 1993
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. 2760205 1989