LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Familial hypercholesterolemia - homozygous ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Molecular genetics of familial hypercholesterolemia in Israel-revisited. 28104544 2017
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515 2016
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. 27784735 2016
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Functional characterization and classification of frequent low-density lipoprotein receptor variants. 25378237 2015
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 25487149 2015
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing. 25962062 2015
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 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
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
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
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
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
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
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
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy. 11317362 2001
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia. 9452095 1998
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195 1997