Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879254770
rs879254770
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 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
dbSNP: rs879254704
rs879254704
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		C 0.700 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. 22698793

2012
dbSNP: rs879254704
rs879254704
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		C 0.700 CausalMutation CLINVAR Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients. 11754108

2002
dbSNP: rs879254667
rs879254667
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		C 0.700 GeneticVariation CLINVAR The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. 19446849

2009
dbSNP: rs879254667
rs879254667
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		C 0.700 GeneticVariation CLINVAR Molecular characterization of familial hypercholesterolemia in German and Greek patients. 14974088

2004
dbSNP: rs879254667
rs879254667
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
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
dbSNP: rs879254667
rs879254667
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		C 0.700 GeneticVariation CLINVAR Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. 16542394

2006
dbSNP: rs879254667
rs879254667
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
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
dbSNP: rs879254667
rs879254667
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		C 0.700 GeneticVariation CLINVAR Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients. 11754108

2002
dbSNP: rs879254667
rs879254667
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
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
dbSNP: rs879254667
rs879254667
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		C 0.700 GeneticVariation CLINVAR FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations. 15200491

2004
dbSNP: rs879254667
rs879254667
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
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
dbSNP: rs879254667
rs879254667
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
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
dbSNP: rs875989926
rs875989926
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia. 10532689

1999
dbSNP: rs875989926
rs875989926
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515

2016
dbSNP: rs875989926
rs875989926
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306

2010
dbSNP: rs875989926
rs875989926
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses. 19208450

2009
dbSNP: rs875989926
rs875989926
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Mutant transcripts of the LDL receptor gene: mRNA structure and quantity. 10090473

1999
dbSNP: rs875989926
rs875989926
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs875989911
rs875989911
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
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
dbSNP: rs875989911
rs875989911
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
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
dbSNP: rs875989911
rs875989911
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 GeneticVariation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272

2001
dbSNP: rs875989911
rs875989911
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 GeneticVariation CLINVAR Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195

1997
dbSNP: rs875989911
rs875989911
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
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
dbSNP: rs875989911
rs875989911
LDLR
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		A 0.700 GeneticVariation CLINVAR Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. 21382890

2011