Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 GeneticVariation CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515

2016
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 CausalMutation CLINVAR Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations. 27680772

2016
dbSNP: rs121908028
rs121908028
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: rs121908028
rs121908028
LDLR
G 0.710 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 CausalMutation CLINVAR Genetic analysis of familial hypercholesterolaemia in Western Australia. 22883975

2012
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 GeneticVariation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417

2011
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 CausalMutation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417

2011
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 CausalMutation CLINVAR Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. 21382890

2011
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 CausalMutation CLINVAR An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia. 19467224

2009
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 CausalMutation CLINVAR Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia. 17539906

2007
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 GeneticVariation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436

2004
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 GeneticVariation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272

2001
dbSNP: rs121908028
rs121908028
LDLR
0.710 GeneticVariation BEFREE Because LDL-A modules occur as a series of contiguous repeats in the LDLR and related proteins, we investigated the impact of two FH mutations in LDL-A module five (D203G and D206E) and two mutations in module six (E219K and D245E) in the context of the covalently connected module five-six pair. 11052664

2000
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 GeneticVariation CLINVAR Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations. 9664576

1998
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 GeneticVariation CLINVAR Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics. 7718024

1994
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 GeneticVariation CLINVAR Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom. 8093663

1993
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 GeneticVariation CLINVAR Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. 2569482

1989
dbSNP: rs121908028
rs121908028
LDLR
G 0.710 CausalMutation CLINVAR Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. 2569482

1989
dbSNP: rs121908028
rs121908028
LDLR
A 0.710 CausalMutation CLINVAR