Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373646964
rs373646964
C 0.700 GeneticVariation CLINVAR Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. 30586733

2019

dbSNP: rs879254867
rs879254867
C 0.700 CausalMutation CLINVAR Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia. 28458923

2017

dbSNP: rs879254787
rs879254787
C 0.700 CausalMutation CLINVAR Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic. 28379029

2017

dbSNP: rs144614838
rs144614838
A 0.700 GeneticVariation CLINVAR Homozygous familial hypercholesterolemia: Summarized case reports. 28126585

2017

dbSNP: rs28942079
rs28942079
A 0.700 CausalMutation CLINVAR Molecular genetics of familial hypercholesterolemia in Israel-revisited. 28104544

2017

dbSNP: rs121908043
rs121908043
A 0.700 CausalMutation CLINVAR Mutation detection in Chinese patients with familial hypercholesterolemia. 28028493

2016

dbSNP: rs144614838
rs144614838
A 0.700 GeneticVariation CLINVAR The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey. 27824480

2017

dbSNP: rs28942079
rs28942079
A 0.700 CausalMutation CLINVAR The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey. 27824480

2017

dbSNP: rs879254826
rs879254826
C 0.700 CausalMutation CLINVAR Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. 27784735

2016

dbSNP: rs879254791
rs879254791
C 0.700 CausalMutation CLINVAR Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically. 27765764

2016

dbSNP: rs139624145
rs139624145
A 0.700 CausalMutation CLINVAR Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations. 27680772

2016

dbSNP: rs144614838
rs144614838
A 0.700 GeneticVariation CLINVAR Genetic diagnosis of familial hypercholesterolemia in Han Chinese. 27206935

2017

dbSNP: rs28942080
rs28942080
A 0.710 GeneticVariation CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515

2016

dbSNP: rs570942190
rs570942190
T 0.700 CausalMutation CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515

2016

dbSNP: rs570942190
rs570942190
T 0.700 GeneticVariation CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515

2016

dbSNP: rs879254786
rs879254786
G 0.700 CausalMutation CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515

2016

dbSNP: rs879254787
rs879254787
C 0.700 CausalMutation CLINVAR Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort. 26723464

2016

dbSNP: rs755667663
rs755667663
T 0.700 GeneticVariation CLINVAR Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gain-of-Function Mutations. 26632531

2016

dbSNP: rs121908043
rs121908043
T 0.700 GeneticVariation CLINVAR Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis. 26343872

2015

dbSNP: rs570942190
rs570942190
T 0.700 GeneticVariation CLINVAR Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis. 26343872

2015

dbSNP: rs879254791
rs879254791
C 0.700 CausalMutation CLINVAR Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model. 26081744

2015

dbSNP: rs765696008
rs765696008
A 0.700 CausalMutation CLINVAR Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing. 26077743

2015

dbSNP: rs28942078
rs28942078
A 0.760 GeneticVariation CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859

2016

dbSNP: rs139617694
rs139617694
A 0.700 GeneticVariation CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859

2016

dbSNP: rs139624145
rs139624145
A 0.700 GeneticVariation CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859

2016