Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908033
rs121908033
LDLR
A 0.810 GeneticVariation CLINVAR

dbSNP: rs121908033
rs121908033
LDLR
A 0.810 CausalMutation CLINVAR

dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. 1867200

1991
dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. 8462973

1993
dbSNP: rs121908033
rs121908033
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: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. 1446662

1992
dbSNP: rs121908033
rs121908033
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: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 10422803

1999
dbSNP: rs121908033
rs121908033
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: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. 7583548

1995
dbSNP: rs121908033
rs121908033
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: rs121908033
rs121908033
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: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene. 9852677

1998
dbSNP: rs121908033
rs121908033
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: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. 15177124

2004
dbSNP: rs121908033
rs121908033
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: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. 1464748

1992
dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia. 7550239

1995
dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. 2726768

1989
dbSNP: rs121908033
rs121908033
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: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. 24418289

2014
dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia. 22364837

2012
dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum. 23725921

2013
dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum. 24636176

2014