{{Rsnum
|rsid=1042034
|Gene=APOB
|Chromosome=2
|position=21002409
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.3384
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=APOB
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 67.0 | 26.8 | 6.2
| HCB | 6.7 | 48.9 | 44.4
| JPT | 9.1 | 45.5 | 45.5
| YRI | 77.1 | 20.8 | 2.1
| ASW | 62.5 | 37.5 | 0.0
| CHB | 6.7 | 48.9 | 44.4
| CHD | 0.0 | 0.0 | 0.0
| GIH | 21.9 | 51.0 | 27.1
| LWK | 77.1 | 22.0 | 0.9
| MEX | 58.6 | 39.7 | 1.7
| MKK | 82.7 | 14.7 | 2.6
| TSI | 58.6 | 35.4 | 6.1
| HapMapRevision=28
}}{{Venter SNP
|rsid=1042034
|allele=T
|frequency=0.808
|uid=1103658040693
|type=homozygous_SNP
|hugo=APOB
|ensembl gene=ENSG00000084674
|ensembl transcript=ENST00000381043
|sift=TOLERATED
|disease=Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.
}}

{{ neighbor
| rsid = 1042031
| distance = 472
}}

{{PMID Auto GWAS
|PMID=20686565
|Trait=None
|Title=Biological, clinical and population relevance of 95 loci for blood lipids.
|RiskAllele=C
|Pval=1E-30
|OR=0.9000
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=19503741
|Title=Coding variant Met72Thr in the PEDF gene and risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.
|OA=1
}}

{{PMID Auto
|PMID=19753309
|Title=SOD2 gene polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.
|OA=1
}}

{{GET Evidence
|gene=APOB
|aa_change=Ser4338Asn
|aa_change_short=S4338N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1042034
|overall_frequency_n=8611
|overall_frequency_d=10738
|overall_frequency=0.801918
|n_genomes=50
|n_genomes_annotated=0
|n_haplomes=87
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=1
}}

{{PMID Auto
|PMID=23482652
|Title=Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol
|OA=1
}}

{{PMID Auto
|PMID=23320904
|Title=The role of lipid-related genes, aging-related processes, and environment in healthspan.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}