Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908040
rs121908040
LDLR
T 0.700 GeneticVariation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
dbSNP: rs121908040
rs121908040
LDLR
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. 16542394

2006
dbSNP: rs121908040
rs121908040
LDLR
T 0.700 GeneticVariation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436

2004
dbSNP: rs121908040
rs121908040
LDLR
T 0.700 GeneticVariation CLINVAR An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 10422803

1999
dbSNP: rs121908040
rs121908040
LDLR
T 0.700 GeneticVariation CLINVAR Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response. 9767373

1998