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 |
rs879254867
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.
|
28458923 |
2017 |
rs879254787
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.
|
28379029 |
2017 |
rs144614838
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Homozygous familial hypercholesterolemia: Summarized case reports.
|
28126585 |
2017 |
rs28942079
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetics of familial hypercholesterolemia in Israel-revisited.
|
28104544 |
2017 |
rs121908043
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation detection in Chinese patients with familial hypercholesterolemia.
|
28028493 |
2016 |
rs144614838
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.
|
27824480 |
2017 |
rs28942079
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.
|
27824480 |
2017 |
rs879254826
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
|
27784735 |
2016 |
rs879254791
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
|
27765764 |
2016 |
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 |
rs144614838
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic diagnosis of familial hypercholesterolemia in Han Chinese.
|
27206935 |
2017 |
rs28942080
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
rs570942190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
rs570942190
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
rs879254786
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
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 |
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 |
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 |
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 |
rs879254791
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model.
|
26081744 |
2015 |
rs765696008
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.
|
26077743 |
2015 |
rs28942078
|
|
A |
0.760 |
GeneticVariation |
CLINVAR |
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
|
26036859 |
2016 |
rs139617694
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
|
26036859 |
2016 |
rs139624145
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
|
26036859 |
2016 |