Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771019366
rs771019366
LDLR
G 0.700 GeneticVariation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240

2017
dbSNP: rs771019366
rs771019366
LDLR
G 0.700 GeneticVariation CLINVAR Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 25487149

2015
dbSNP: rs771019366
rs771019366
LDLR
G 0.700 GeneticVariation CLINVAR Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. 11857755

2002
dbSNP: rs771019366
rs771019366
LDLR
G 0.700 GeneticVariation CLINVAR Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. 12436241

2002
dbSNP: rs771019366
rs771019366
LDLR
G 0.700 GeneticVariation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992