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 "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 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 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 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 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: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100. 9339363 1997
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 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene. 11781700 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 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 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 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 Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution. 21657943 2011
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect. 18096825 2008
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 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 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 Genetic heterogeneity of autosomal dominant hypercholesterolemia. 18028451 2008
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 High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects. 11494965 2001
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		T 0.700 CausalMutation CLINVAR Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation. 8318993 1993
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 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 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 genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. 10735632 2000