Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 CausalMutation CLINVAR Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically. 27765764

2016
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 GeneticVariation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306

2010
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 GeneticVariation CLINVAR The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. 19446849

2009
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 CausalMutation CLINVAR Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. 18325082

2008
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 CausalMutation CLINVAR Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene. 18263977

2008
dbSNP: rs28942083
rs28942083
LDLR
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: rs28942083
rs28942083
LDLR
A 0.710 GeneticVariation CLINVAR Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. 12406975

2002
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 GeneticVariation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272

2001
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272

2001
dbSNP: rs28942083
rs28942083
LDLR
T 0.710 GeneticVariation CLINVAR A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom. 11313767

2001
dbSNP: rs28942083
rs28942083
LDLR
0.710 GeneticVariation BEFREE We have then genotyped five markers (D19S413, D19S865, D19S221, D19S914, D19S586) in 102 heterozygotes (38 del > 15kb; 36 W66G; 16 C646Y; 12 E207K), two compound heterozygotes (del > 15kb/W66G; del > 15kb/C646Y) and seven homozygotes (three del > 15 kb; three W66G: one E207K) with FH unrelated to the first and second degree. 10208489

1999
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 GeneticVariation CLINVAR Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online. 10206683

1998
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 CausalMutation CLINVAR Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online. 10206683

1998
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 CausalMutation CLINVAR Three-dimensional structure of a cysteine-rich repeat from the low-density lipoprotein receptor. 7603991

1995
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 CausalMutation CLINVAR Disulfide bridges of a cysteine-rich repeat of the LDL receptor ligand-binding domain. 7548065

1995
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 CausalMutation CLINVAR Structures and functions of multiligand lipoprotein receptors: macrophage scavenger receptors and LDL receptor-related protein (LRP). 7979249

1994
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 CausalMutation CLINVAR Common low-density lipoprotein receptor mutations in the French Canadian population. 2318961

1990
dbSNP: rs28942083
rs28942083
LDLR
A 0.710 GeneticVariation CLINVAR Common low-density lipoprotein receptor mutations in the French Canadian population. 2318961

1990