Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 GeneticVariation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom. 1319734

1992
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Low density lipoprotein kinetics in a family having defective low density lipoprotein receptors in which hypercholesterolemia is suppressed. 2029498

1991
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. 2760205

1989
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 GeneticVariation CLINVAR Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. 2760205

1989
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR European workshop on LDL receptor defects. European Working Group on Familial Hypercholesterolaemia. 7894220

1994
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia. 7947594

1994
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 GeneticVariation CLINVAR Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia. 8096412

1993
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 GeneticVariation CLINVAR Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population. 8828982

1996
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Software and database for the analysis of mutations in the human LDL receptor gene. 9016531

1997
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada. 9484998

1998
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias. 9654205

1998
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 GeneticVariation CLINVAR LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias. 9654205

1998
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Unusual inheritance of severe primary hypercholesterolemia. 10407508

1999
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 10422803

1999
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Sequence diversity in genes of lipid metabolism. 11381031

2001
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients. 11754108

2002
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Increasing the sensitivity of single-strand conformation polymorphism analysis of the LDLR gene mutations in brazilian patients with familial hypercholesterolemia. 12113284

2002
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR The UMD-LDLR database: additions to the software and 490 new entries to the database. 12124988

2002
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population. 14508510

2003
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Magnitude of HDL cholesterol variation after high-dose atorvastatin is genetically determined at the LDL receptor locus in patients with homozygous familial hypercholesterolemia. 14512370

2003
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Degradation of the LDL receptor class 2 mutants is mediated by a proteasome-dependent pathway. 14993243

2004
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 GeneticVariation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436

2004
dbSNP: rs121908026
rs121908026
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436

2004