{{Rsnum
|rsid=693
|Gene=APOB
|Chromosome=2
|position=21009323
|Orientation=minus
|ReferenceAllele=C
|GMAF=0.2741
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=APOB
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 24.8 | 52.2 | 23.0
| HCB | 90.5 | 9.5 | 0.0
| JPT | 88.5 | 11.5 | 0.0
| YRI | 64.6 | 31.3 | 4.1
| ASW | 57.9 | 33.3 | 8.8
| CHB | 90.5 | 9.5 | 0.0
| CHD | 85.3 | 11.9 | 2.8
| GIH | 56.4 | 39.6 | 4.0
| LWK | 76.4 | 21.8 | 1.8
| MEX | 36.2 | 55.2 | 8.6
| MKK | 57.1 | 40.4 | 2.6
| TSI | 31.4 | 49.0 | 19.6
| HapMapRevision=28
}}{{Report GE
|PubMed=17463246
|Source=lit
|AffyProbeset=SNP_A-4291370
|AffyOrientation=same
|AlleleA=C
|AlleleB=T
|onGW5=1
|rsid=693
|ancestral=C
|RiskPopulation=NEU
|RiskAllele=T
|CaseFreq=
|ControlFreq=0.45
|OddsRatioHet=
|OddsRatioHom=
|OddsRatioAll=-
|Disease=Elevated Apolipoprotein B
|DiseaseSymbol=E-APOB
}}

[[rs693]] increases susceptibility to Elevated Apolipoprotein B and LDL-Cholesterol for carriers of the T allele {{PMID|17463246}}

{{PMID Auto GWAS
|PMID=19060911
|Trait=Cholesterol, total
|Title=Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
|RiskAllele=G
|Pval=9E-23
|OR=0.10
|ORtxt=[NR] SD decrease
|OA=1
}}
{{PMID Auto GWAS
|PMID=19060910
|Trait=LDL cholesterol
|Title=Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
|RiskAllele=A
|Pval=3E-11
|OR=0.12
|ORtxt=[0.09-0.16] mmol/l increase
|OA=1
}}
{{PMID Auto GWAS
|PMID=18193044
|Trait=LDL cholesterol
|Title=Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
|RiskAllele=A
|Pval=9.9999999999999991E-22
|OR=0.12
|ORtxt=[0.10-0.14] % SD higher
|OA=1
}}

{{omim
|desc=APOLIPOPROTEIN B; APOB
|id=107730
|rsnum=693
}}

{{PharmGKB
|RSID=rs693
|Name_s=
|Gene_s=APOB
|Feature=Exon/Syn
|Evidence=PubMed ID:19060911; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 17,797 individuals; Replication Sample Size: NR); (Region: 2p24.1; Reported Gene(s): APOB; Risk Allele: rs693-G); (p-value= 0.00000000000000004).This variant is associated with LDL cholesterol.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740213
}}

{{PMID Auto
|PMID=20082485
|Title=Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women
|OA=1
}}

{{PMID Auto
|PMID=19773416
|Title=A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women
|OA=1
}}
{{PMID Auto
|PMID=20724655
|Title=ApoB genetic variants modify the response to fenofibrate: a GOLDN study
|OA=1
}}

{{PharmGKB
|RSID=rs693
|Name_s=APOB:Xba1
|Gene_s=APOB
|Feature=Exon/Syn
|Evidence=PubMed ID:10845572; PubMed ID:15044381
|Annotation=The X+ allele of APOB:Xba1 was associated with elevated serum total cholesterol and LDL and may be a marker for cholesterol gallstone disease.
|Drugs=
|Drug Classes=
|Diseases=Cholelithiasis
|Curation Level=Curated
|PharmGKB Accession ID=PA162361482
}}

{{PharmGKB
|RSID=rs693
|Name_s=
|Gene_s=APOB
|Feature=Exon/Syn
|Evidence=PubMed ID:19060910; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. (Initial Sample Size: 4,763 individuals; Replication Sample Size: NR); (Region: 2p24.1; Reported Gene(s): APOB; Risk Allele: rs693-A); (p-value= 0.00000000003).This variant is associated with LDL cholesterol.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740280
}}

{{PharmGKB
|RSID=rs693
|Name_s=
|Gene_s=APOB
|Feature=Exon/Syn
|Evidence=PubMed ID:19060911; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 22,562 individuals; Replication Sample Size: NR); (Region: 2p24.1; Reported Gene(s): APOB; Risk Allele: rs693-G); (p-value= 9E-23).This variant is associated with Cholesterol, total.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740198
}}
{{PMID Auto
|PMID=20570668
|Title=Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau
}}

{{PMID Auto
|PMID=18196181
|Title=Correction of population stratification in large multi-ethnic association studies.
|OA=1
}}

{{PMID Auto
|PMID=18262040
|Title=LDL-cholesterol concentrations: a genome-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=19148283
|Title=Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=19161620
|Title=An open access database of genome-wide association results.
|OA=1
}}

{{PMID Auto
|PMID=19185284
|Title=Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=19197348
|Title=Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
|OA=1
}}

{{PMID Auto
|PMID=19435741
|Title=Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.
|OA=1
}}

{{PMID Auto
|PMID=19656773
|Title=A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.
|OA=1
}}

{{PMID Auto
|PMID=19802338
|Title=Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.
|OA=1
}}

{{PMID Auto
|PMID=19951432
|Title=Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
|OA=1
}}

{{PMID Auto
|PMID=20018036
|Title=Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes.
|OA=1
}}

{{PMID Auto
|PMID=20502693
|Title=Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.
|OA=1
}}

{{PMID Auto
|PMID=20972250
|Title=Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.
}}

{{PMID Auto
|PMID=22688886
|Title=Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) study.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs693
|overall_frequency_n=4396
|overall_frequency_d=10758
|overall_frequency=0.408626
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=36
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23098650
|Title=Impact of variants within seven candidate genes on statin treatment efficacy
}}

{{PMID Auto
|PMID=23247049
|Title=Genetic variants in genes related to lipid metabolism and atherosclerosis, dyslipidemia and atorvastatin response
}}

{{PMID Auto
|PMID=23588940
|Title=Association of Polymorphisms Modulating Low-density Lipoprotein Cholesterol with Susceptibility, Severity, and Progression of Rheumatoid Arthritis
}}

{{PMID Auto
|PMID=23861364
|Title=Do Genetic Modifiers of HDL-C and Triglyceride Levels also Modify Their Response to a Lifestyle Intervention in the Setting of Obesity and Type-2 Diabetes Mellitus? The Look AHEAD Study
}}

{{PMID Auto
|PMID=22715478
|Title=Genotypes associated with lipid metabolism contribute to differences in serum lipid profile of GH-deficient adults before and after GH replacement therapy.
}}

{{PMID Auto
|PMID=22922093
|Title=Low-density lipoprotein cholesterol and risk of gallstone disease: a Mendelian randomization study and meta-analyses.
}}

{{PMID Auto
|PMID=23021345
|Title=Gene-diet interactions on plasma lipid levels in the Inuit population.
}}

{{PMID Auto
|PMID=23444115
|Title=Associations of polymorphisms of rs693 and rs1042031 in apolipoprotein B gene with risk of breast cancer in Chinese.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}