APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
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: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859 2016
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects. 25461735 2015
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. 24784157 2014
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. 24234650 2014
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. 24987033 2014
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. 24507774 2014
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Mutation detection in Croatian patients with familial hypercholesterolemia. 23130880 2013
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China. 22353362 2012
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes. 22294733 2012
dbSNP: rs146377316
rs146377316
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		A 0.700 GeneticVariation CLINVAR Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. 22408029 2012
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
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: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Genetic analysis of familial hypercholesterolaemia in Western Australia. 22883975 2012
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort. 23064986 2012
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Molecular characterization of familial hypercholesterolemia in Spain. 22244043 2012
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia. 23054246 2012
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Array-based resequencing for mutations causing familial hypercholesterolemia. 21376320 2011
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
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: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution. 21657943 2011
dbSNP: rs144467873
rs144467873
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		A 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: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306 2010
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Molecular spectrum of autosomal dominant hypercholesterolemia in France. 20809525 2010
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. 20236128 2010
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations. 18700895 2008
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Familial hypercholesterolaemia in Portugal. 17765246 2008