Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs875989906
rs875989906
A 0.710 CausalMutation CLINVAR Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing. 25962062

2015

dbSNP: rs875989906
rs875989906
A 0.710 CausalMutation CLINVAR Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing. 24075752

2013

dbSNP: rs875989906
rs875989906
T 0.710 GeneticVariation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013

dbSNP: rs875989906
rs875989906
T 0.710 GeneticVariation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246

2008

dbSNP: rs875989906
rs875989906
A 0.710 CausalMutation CLINVAR Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic. 17094996

2007

dbSNP: rs875989906
rs875989906
A 0.710 GeneticVariation CLINVAR Update of the molecular basis of familial hypercholesterolemia in The Netherlands. 16250003

2005

dbSNP: rs875989906
rs875989906
A 0.710 GeneticVariation CLINVAR Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. 15359125

2004

dbSNP: rs875989906
rs875989906
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: rs875989906
rs875989906
A 0.710 CausalMutation CLINVAR Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. 11196104

2000

dbSNP: rs875989906
rs875989906
A 0.710 GeneticVariation CLINVAR Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online. 10090484

1999

dbSNP: rs875989906
rs875989906
T 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: rs875989906
rs875989906
T 0.710 GeneticVariation CLINVAR Mutation D200Y was found in a single FH family, while mutation E207K was detected in two apparently unrelated Indian families on a new mutual haplotype. 9237502

1997

dbSNP: rs875989906
rs875989906
0.710 GeneticVariation BEFREE Mutation D200Y was found in a single FH family, while mutation E207K was detected in two apparently unrelated Indian families on a new mutual haplotype. 9237502

1997

dbSNP: rs875989906
rs875989906
A 0.710 GeneticVariation CLINVAR Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group. 9409298

1997

dbSNP: rs875989906
rs875989906
T 0.710 GeneticVariation CLINVAR Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia. 7649546

1995

dbSNP: rs875989906
rs875989906
T 0.710 GeneticVariation CLINVAR Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene. 7573037

1995

dbSNP: rs875989906
rs875989906
A 0.710 CausalMutation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992

dbSNP: rs875989906
rs875989906
A 0.710 CausalMutation CLINVAR [Exophthalmos caused by orbital metastasis of prostatic carcinoma]. 1714262

1991

dbSNP: rs875989906
rs875989906
T 0.710 CausalMutation CLINVAR