Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs875989929
rs875989929
LDLR
A 0.710 GeneticVariation CLINVAR Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study. 28965616

2017
dbSNP: rs28942084
rs28942084
LDLR
T 0.710 CausalMutation CLINVAR Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 25487149

2015
dbSNP: rs28942084
rs28942084
LDLR
T 0.710 CausalMutation CLINVAR Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. 25647241

2015
dbSNP: rs121908025
rs121908025
LDLR
G 0.710 CausalMutation CLINVAR Genealogical analysis as a new approach for the investigation of drug intolerance heritability. 24281370

2014
dbSNP: rs121908025
rs121908025
LDLR
G 0.710 CausalMutation CLINVAR Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic. 23669246

2013
dbSNP: rs28942084
rs28942084
LDLR
T 0.710 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs28942084
rs28942084
LDLR
T 0.710 CausalMutation CLINVAR The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. 23680767

2013
dbSNP: rs28942084
rs28942084
LDLR
T 0.710 CausalMutation CLINVAR Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. 22390909

2012
dbSNP: rs28942084
rs28942084
LDLR
T 0.710 CausalMutation CLINVAR Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. 21382890

2011
dbSNP: rs28942084
rs28942084
LDLR
T 0.710 CausalMutation CLINVAR Update of the Portuguese Familial Hypercholesterolaemia Study. 20828696

2010
dbSNP: rs875989929
rs875989929
LDLR
A 0.710 GeneticVariation CLINVAR Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. 16542394

2006
dbSNP: rs121908025
rs121908025
LDLR
G 0.710 CausalMutation CLINVAR Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations. 15528480

2005
dbSNP: rs121908025
rs121908025
LDLR
G 0.710 CausalMutation CLINVAR LDL-receptor mutations in Europe. 15523646

2004
dbSNP: rs28942084
rs28942084
LDLR
0.710 GeneticVariation BEFREE Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia. 10563483

1999
dbSNP: rs875989929
rs875989929
LDLR
A 0.710 GeneticVariation CLINVAR Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia. 10532689

1999
dbSNP: rs121908025
rs121908025
LDLR
G 0.710 CausalMutation CLINVAR Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec. 9272705

1997
dbSNP: rs121908025
rs121908025
LDLR
G 0.710 CausalMutation CLINVAR The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark. 8645371

1996
dbSNP: rs875989929
rs875989929
LDLR
0.710 GeneticVariation BEFREE We describe the clinical, biochemical, and genetic features of a patient with true homozygous familial hypercholesterolemia due to the D558N low-density lipoprotein receptor gene mutation, previously designated FH Cincinnati-4. 9007329

1996
dbSNP: rs875989929
rs875989929
LDLR
A 0.710 GeneticVariation CLINVAR An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia. 7635461

1995
dbSNP: rs121908025
rs121908025
LDLR
G 0.710 CausalMutation CLINVAR Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia. 8054972

1994
dbSNP: rs121908025
rs121908025
LDLR
0.710 GeneticVariation BEFREE Because FH is caused by mutations at the low-density-lipoprotein-gene locus, we compared plasma-cholesterol concentrations in 21 FH homozygotes with either the greater than 10 kb deletion (promoter region and exon 1) (11 subjects) or the exon 3 missense (trp66-->gly) mutation (10 subjects) of the low-density-lipoprotein gene. 8098448

1993
dbSNP: rs121908025
rs121908025
LDLR
G 0.710 CausalMutation CLINVAR Because FH is caused by mutations at the low-density-lipoprotein-gene locus, we compared plasma-cholesterol concentrations in 21 FH homozygotes with either the greater than 10 kb deletion (promoter region and exon 1) (11 subjects) or the exon 3 missense (trp66-->gly) mutation (10 subjects) of the low-density-lipoprotein gene. 8098448

1993
dbSNP: rs28942084
rs28942084
LDLR
T 0.710 CausalMutation CLINVAR Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. 1464748

1992
dbSNP: rs875989929
rs875989929
LDLR
A 0.710 GeneticVariation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992
dbSNP: rs28942084
rs28942084
LDLR
T 0.710 CausalMutation CLINVAR Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene. 1830890

1991