rs121908030, LDLR

N. diseases: 6
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 GeneticVariation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417 2011
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia. 21418584 2011
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272 2001
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.700 GeneticVariation CLINVAR
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. 12436241 2002
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
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
0.700 GeneticVariation CLINVAR
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations. 9664576 1998
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
0.700 GeneticVariation CLINVAR
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method. 1301940 1992
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
0.700 CausalMutation CLINVAR
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia. 4061492 1985
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic. 17094996 2007
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. 12436241 2002
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.700 CausalMutation CLINVAR
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations. 9664576 1998
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 25487149 2015
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956 1992
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. 2088165 1990
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
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
0.700 CausalMutation CLINVAR
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia. 21418584 2011
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272 2001