Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs144467873
rs144467873
APOB
A 0.700 CausalMutation CLINVAR Genetic diagnosis of familial hypercholesterolemia in Han Chinese. 27206935

2017
dbSNP: rs144467873
rs144467873
APOB
A 0.700 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 0.700 CausalMutation CLINVAR Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. 24234650

2014
dbSNP: rs144467873
rs144467873
APOB
A 0.700 CausalMutation CLINVAR Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands. 23936638

2013
dbSNP: rs144467873
rs144467873
APOB
A 0.700 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686

2013
dbSNP: rs144467873
rs144467873
APOB
A 0.700 CausalMutation CLINVAR Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes. 22294733

2012
dbSNP: rs144467873
rs144467873
APOB
A 0.700 CausalMutation CLINVAR Array-based resequencing for mutations causing familial hypercholesterolemia. 21376320

2011
dbSNP: rs144467873
rs144467873
APOB
A 0.700 CausalMutation CLINVAR Update of the molecular basis of familial hypercholesterolemia in The Netherlands. 16250003

2005
dbSNP: rs144467873
rs144467873
APOB
A 0.700 CausalMutation CLINVAR Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia. 11238294

2001
dbSNP: rs144467873
rs144467873
APOB
A 0.700 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 0.700 CausalMutation CLINVAR Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese. 9702952

1998
dbSNP: rs144467873
rs144467873
APOB
A 0.700 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 0.700 CausalMutation CLINVAR Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. 7627691

1995
dbSNP: rs144467873
rs144467873
APOB
A 0.700 CausalMutation CLINVAR Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. 2563166

1989