|
rs875989929
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
|
28965616 |
2017 |
|
rs875989929
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
|
16542394 |
2006 |
|
rs875989929
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.
|
10532689 |
1999 |
|
rs875989929
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.
|
7635461 |
1995 |
|
rs875989929
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
|
1301956 |
1992 |
|
rs879254667
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
|
19446849 |
2009 |
|
rs879254667
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular characterization of familial hypercholesterolemia in German and Greek patients.
|
14974088 |
2004 |
|
rs879254667
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
rs879254667
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
|
16542394 |
2006 |
|
rs879254667
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.
|
23510778 |
2013 |
|
rs879254667
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
|
11754108 |
2002 |
|
rs879254667
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.
|
21925044 |
2011 |
|
rs879254667
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.
|
15200491 |
2004 |
|
rs879254667
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
|
rs879254667
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.
|
10978268 |
2000 |
|
rs875989911
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.
|
11040093 |
2000 |
|
rs875989911
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.
|
11857755 |
2002 |
|
rs875989911
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
|
rs875989911
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
|
rs875989911
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.
|
27680772 |
2016 |
|
rs875989911
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
|
21382890 |
2011 |
|
rs875989911
|
|
Familial hypercholesterolemia - homozygous
|
A |
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 |
|
rs875989909
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.
|
1301940 |
1992 |
|
rs875989909
|
|
Familial hypercholesterolemia - homozygous
|
G |
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 |
|
rs875989909
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
|
17094996 |
2007 |