|
rs879254867
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
|
21382890 |
2011 |
|
rs879254867
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
|
11196104 |
2000 |
|
rs879254867
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
rs879254867
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
|
rs879254867
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay.
|
9727746 |
1998 |
|
rs879254867
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.
|
22390909 |
2012 |
|
rs876657697
|
|
Familial hypercholesterolemia - homozygous
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
|
11196104 |
2000 |
|
rs876657697
|
|
Familial hypercholesterolemia - homozygous
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.
|
11139254 |
2001 |
|
rs875989916
|
|
Familial hypercholesterolemia - homozygous
|
AGGGT |
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
|
rs875989916
|
|
Familial hypercholesterolemia - homozygous
|
AGGGT |
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
rs875989916
|
|
Familial hypercholesterolemia - homozygous
|
AGGGT |
0.700 |
CausalMutation
|
CLINVAR |
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.
|
16389549 |
2006 |
|
rs730882102
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening.
|
17196209 |
2008 |
|
rs730882102
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic testing of familial hypercholesterolemia in a real clinical setting.
|
27542166 |
2016 |
|
rs730882102
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
|
rs730882102
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
|
25647241 |
2015 |
|
rs730882102
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
|
25487149 |
2015 |
|
rs730882102
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
rs730882102
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
|
28008010 |
2016 |
|
rs730882102
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
|
rs570942190
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
|
rs570942190
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.
|
25962062 |
2015 |
|
rs570942190
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
|
25487149 |
2015 |
|
rs570942190
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
|
20538126 |
2010 |
|
rs570942190
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetics of familial hypercholesterolemia in Israel-revisited.
|
28104544 |
2017 |
|
rs570942190
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |