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 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. 17142622 2006
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Molecular genetics of familial hypercholesterolaemia in Norway. 9104431 1997
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR A unique haplotype of the apolipoprotein B-100 allele associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study of the prevalence of this disorder. 8371062 1993
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. 11115503 2001
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia. 1793440 1991
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: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient. 1360085 1992
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 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 Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. 2563166 1989
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100. 1977310 1990
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 Rapid testing for three mutations causing familial defective apolipoprotein B100 in 562 patients with familial hypercholesterolaemia. 8831935 1996
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. 10735632 2000
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: 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 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 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 LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias. 9654205 1998
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
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR "Accumulation of ""small dense"" low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor." 8254047 1993
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary. 11137107 2001
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. 1466657 1992
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