Gene: APOB ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE The prevalence of FDB Arg3500Gln mutation in hypercholesterolaemic Polish subjects (3.7%) seems to be similar to the frequency reported in other Caucasian hypercholesterolaemic populations. 11781700

2001
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE PCSK9 inhibitor therapy in homozygous familial defective apolipoprotein B-100 due to APOB R3500Q: A case report. 28988723

2018
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE Eight (5.1%) unrelated individuals were found to be heterozygous for the FDB R3500Q mutation, including two (3.7%) of those 54 classified clinically as having FH. 10795369

1999
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE By screening two groups of probands, clinically diagnosed as having Familial Hypercholesterolemia (700 from mainland Italy and 305 from Sicily), the prevalence of familial defective apolipoprotein B-100 due to Arg3500Gln was found to be very low (0.28% and 0.65%, respectively). 11833852

2001
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation UNIPROT Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. 2563166

1989
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE Familial defective apolipoprotein B-100: detection and haplotype analysis of the Arg(3500)-->Gln mutation in hyperlipidemic Chinese. 10998466

2000
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation UNIPROT Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population. 9259199

1997
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE The Arg3500Gln mutation in the apolipoprotein B gene, which is responsible for familial defective apolipoprotein B-100 and is present in approximately 1 in 1000 persons in Denmark, causes severe hypercholesterolemia and increases the risk of ischemic heart disease. 9603795

1998
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE Independent mutation of arginine(3500)-->glutamine associated with familial defective apolipoprotein B-100. 8509718

1993
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE Familial defective apolipoprotein B-100 (FDB) is a dominantly inherited disorder caused by the substitution of glutamine for arginine at position 3500 in apo B-100. 8141833

1993
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE Familial defective apolipoprotein B-100 (FDB) is a genetic disorder caused by a substitution of glutamine for arginine at residue 3500 of the apolipoprotein B-100 molecule. 10984082

2000
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE Two specific mutations in the APOB gene--R3500Q and R3531C--induce FDB. 9259199

1997
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE One individual with familial defective apolipoprotein B-100 (Arg3500Gln) was found in each group. 11055796

2000
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE In our FH probands, four cases of FDB (R3500Q mutation) were diagnosed with allele-specific PCR, and the mutation was also detectable in five cases out of seven living family members. 11137107

2001
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation UNIPROT Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. 21382890

2011
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE Population studies suggest that approximately 0.1% of Northern Europeans and US Caucasians carries the R3500Q variant in APOB most commonly associated with FDB; in addition, the APOB R3500 W variant is known to make a significant contribution to familial hypercholesterolemia (FH) among East Asians. 27919345

2017
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation UNIPROT Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity. 7883971

1995
dbSNP: rs5742904
rs5742904
APOB
0.900 GeneticVariation BEFREE Additional genotyping revealed the presence of R3500Q, the mutation responsible for familial defective apolipoprotein B-100, which was also strongly associated with LDL-C in the replication sample (P < 10(-36)). 21059979

2010
dbSNP: rs144467873
rs144467873
APOB
0.710 GeneticVariation BEFREE 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: rs12713559
rs12713559
APOB
0.010 GeneticVariation BEFREE Two specific mutations in the APOB gene--R3500Q and R3531C--induce FDB. 9259199

1997
dbSNP: rs200222843
rs200222843
APOB
0.010 GeneticVariation BEFREE Apolipoprotein B-100 Hopkins (arginine4019----tryptophan). A new apolipoprotein B-100 variant in a family with premature atherosclerosis and hyperapobetalipoproteinemia. 2778934

1989
dbSNP: rs779283285
rs779283285
APOB
0.010 GeneticVariation BEFREE 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: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk. 21862702

2011
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes. 22294733

2012
dbSNP: rs144467873
rs144467873
APOB
A 0.710 CausalMutation CLINVAR Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands. 23936638

2013