Gene: APOB ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Update of the molecular basis of familial hypercholesterolemia in The Netherlands. 16250003

2005
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype. 9191540

1997
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. 24234650

2014
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Array-based resequencing for mutations causing familial hypercholesterolemia. 21376320

2011
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese. 9702952

1998
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. 2563166

1989
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL. 10388479

1999
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population. 26415676

2015
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia. 11238294

2001
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. 7627691

1995
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Genetic diagnosis of familial hypercholesterolemia in Han Chinese. 27206935

2017
dbSNP: rs562574661
rs562574661
APOB
A 0.700 GeneticVariation CLINVAR

dbSNP: rs766243954
rs766243954
APOB
A 0.700 CausalMutation CLINVAR

dbSNP: rs1558564161
rs1558564161
APOB
C 0.700 CausalMutation CLINVAR Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels. 22095935

2012
dbSNP: rs368825685
rs368825685
APOB
C 0.700 CausalMutation CLINVAR Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length. 8468533

1993
dbSNP: rs368825685
rs368825685
APOB
C 0.700 CausalMutation CLINVAR Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. 24507775

2014
dbSNP: rs1558560212
rs1558560212
APOB
G 0.700 GeneticVariation CLINVAR Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B. 20032471

2010
dbSNP: rs5742904
rs5742904
APOB
T 0.900 CausalMutation CLINVAR Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL. 10388479

1999
dbSNP: rs5742904
rs5742904
APOB
T 0.900 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs5742904
rs5742904
APOB
T 0.900 CausalMutation CLINVAR Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK. 9105560

1997
dbSNP: rs5742904
rs5742904
APOB
T 0.900 CausalMutation CLINVAR Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. 2563166

1989
dbSNP: rs5742904
rs5742904
APOB
T 0.900 CausalMutation CLINVAR Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. 7627691

1995
dbSNP: rs5742904
rs5742904
APOB
T 0.900 CausalMutation CLINVAR Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor. 15797858

2005
dbSNP: rs5742904
rs5742904
APOB
T 0.900 CausalMutation CLINVAR Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family. 21868016

2011