rs121908030, LDLR

N. diseases: 6
Source: ALL
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 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
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
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
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
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
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
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
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, 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
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
0.700 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381 2015
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
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 Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. 12436241 2002
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
0.700 CausalMutation CLINVAR
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
0.700 CausalMutation CLINVAR
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
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 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 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 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272 2001