Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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
dbSNP: rs28942084
rs28942084
LDLR
T 0.710 CausalMutation CLINVAR Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. 2726768

1989
dbSNP: rs28942084
rs28942084
LDLR
T 0.710 CausalMutation CLINVAR Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject. 2920733

1989