APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
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: C1704417
Disease:
Hyperlipoproteinemia Type IIb 		0.900 GeneticVariation UNIPROT Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. 21382890 2011
dbSNP: rs5742904
rs5742904
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C1704417
Disease:
Hyperlipoproteinemia Type IIb 		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
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C1704417
Disease:
Hyperlipoproteinemia Type IIb 		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
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C1704417
Disease:
Hyperlipoproteinemia Type IIb 		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: rs10199768
rs10199768
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. 21943158 2011
dbSNP: rs10199768
rs10199768
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1041968
rs1041968
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs1041968
rs1041968
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C1445957
Disease:
Serum total cholesterol measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1041968
rs1041968
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1041968
rs1041968
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs1041968
rs1041968
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C1445957
Disease:
Serum total cholesterol measurement 		A 0.800 GeneticVariation GWASCAT The impact of low-frequency and rare variants on lipid levels. 25961943 2015
dbSNP: rs1041968
rs1041968
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1041968
rs1041968
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0202236
Disease:
Triglycerides measurement 		C 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0392885
Disease:
High density lipoprotein measurement 		C 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		C 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973 2019
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0202236
Disease:
Triglycerides measurement 		0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0202236
Disease:
Triglycerides measurement 		0.800 GeneticVariation GWASDB Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. 22629316 2012
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0392885
Disease:
High density lipoprotein measurement 		C 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0392885
Disease:
High density lipoprotein measurement 		C 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs1042034
rs1042034
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C1445957
Disease:
Serum total cholesterol measurement 		C 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018