Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Recommendations for the management of patients with familial hypercholesterolemia. 25404096

2015
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. 25053660

2014
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum. 24636176

2014
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. 24418289

2014
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum. 23725921

2013
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland. 22160468

2012
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia. 22364837

2012
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail. 22509010

2012
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. 21600525

2011
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations. 17347910

2007
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. 17142622

2006
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. 15177124

2004
dbSNP: rs750518671
rs750518671
LDLR
0.810 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: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia. 11462246

2001
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia. 10882754

2000
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 10422803

1999
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online. 10090484

1999
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene. 9852677

1998
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Possible common mutations in the low density lipoprotein receptor gene in Chinese. 9452118

1998
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Molecular genetics of familial hypercholesterolaemia in Norway. 9104431

1997
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195

1997
dbSNP: rs750518671
rs750518671
LDLR
0.810 GeneticVariation UNIPROT Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. 7583548

1995