Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942080
rs28942080
A 0.710 GeneticVariation CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515

2016

dbSNP: rs28942080
rs28942080
A 0.710 GeneticVariation CLINVAR Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum. 25463123

2014

dbSNP: rs28942080
rs28942080
A 0.710 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013

dbSNP: rs28942080
rs28942080
A 0.710 GeneticVariation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417

2011

dbSNP: rs28942080
rs28942080
A 0.710 CausalMutation CLINVAR An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations. 21865347

2011

dbSNP: rs28942080
rs28942080
A 0.710 GeneticVariation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436

2004

dbSNP: rs28942080
rs28942080
A 0.710 GeneticVariation CLINVAR Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. 15241806

2004

dbSNP: rs28942080
rs28942080
A 0.710 CausalMutation CLINVAR Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. 15241806

2004

dbSNP: rs28942080
rs28942080
0.710 GeneticVariation BEFREE Mutations that were previously reported to be disease causing were identified in eight of nine individuals with FH and both cell lines (V502M, C146X, E207X, C660X, C646Y, and delG197), but none were found in controls. 12406975

2002

dbSNP: rs28942080
rs28942080
A 0.710 GeneticVariation CLINVAR Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. 12436241

2002

dbSNP: rs28942080
rs28942080
A 0.710 GeneticVariation CLINVAR Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia. 9974426

1999

dbSNP: rs28942080
rs28942080
A 0.710 GeneticVariation CLINVAR Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. 7616128

1995

dbSNP: rs28942080
rs28942080
A 0.710 GeneticVariation CLINVAR The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. 2088165

1990

dbSNP: rs28942080
rs28942080
T 0.710 GeneticVariation CLINVAR