{{Rsnum
|rsid=2075291
|Gene=APOA5
|Chromosome=11
|position=116790676
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=T
|GMAF=0.01194
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=APOA5
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 0.0 | 2.7 | 97.3
| HCB | 0.0 | 9.0 | 91.0
| JPT | 0.0 | 8.2 | 91.8
| YRI | 0.0 | 1.4 | 98.6
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 9.0 | 91.0
| CHD | 0.0 | 10.2 | 89.8
| GIH | 0.0 | 1.0 | 99.0
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 1.7 | 98.3
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}SNP [[rs2075291]] represents a glycine to cysteine substitution at amino acid 185 of the [[APOA5]] protein; it is also known as p.185Gly>Cys or c.553G>T.

In both Chinese and non-Chinese Asians, the A allele (leading to the cysteine) is associated with higher risk for hypertriglyceridemia. The odds ratio is 4.45 (CI: 2.18-9.07, p<0.001). Heterozygosity was associated with a doubling of triglyceride levels, and all (11) [[rs2075291]](A;A) homozygotes (as oriented relative to dbSNP, not as published) had severe hypertriglyceridemia (mean triglyceride level of 2292 +/- 447 mg/dl).{{PMID|18441017|OA=1
}} 

{{PMID Auto
|PMID=19732897
|Title=Associations of polymorphisms in the apolipoprotein A1/C3/A4/A5 gene cluster with familial combined hyperlipidaemia in Hong Kong Chinese
}}

{{omim
|id=606368
|rsnum=2075291
|variant=0001
}}

{{ClinVar
|rsid=2075291
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=116661392
|CHROM=11
|GMAF=0.0119
|dbSNPBuildID=96
|SSR=0
|SAO=1
|VP=0x050368000000150517110100
|GENEINFO=APOA5:116519
|GENE_NAME=APOA5
|GENE_ID=116519
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.116661392C>A
|CLNORIGIN=1
|CLNSIG=255
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9881; 0.01194
|CLNACC=RCV000004652.1
|CLNDBN=Hypertriglyceridemia, susceptibility to
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=606368.0001
|COMMON=1
|Disease=Hypertriglyceridemia
}}

{{PMID Auto
|PMID=19041386
|Title=Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
|OA=1
}}

{{PMID Auto
|PMID=21423763
|Title=Interactions of the apolipoprotein A5 gene polymorphisms and alcohol consumption on serum lipid levels.
|OA=1
}}

{{PMID Auto
|PMID=22517333
|Title=Associations of apolipoprotein A5 (APOA5), glucokinase (GCK) and glucokinase regulatory protein (GCKR) polymorphisms and lifestyle factors with the risk of dyslipidemia and dysglycemia in Japanese - a cross-sectional data from the J-MICC Study.
}}

{{PMID Auto
|PMID=22924697
|Title=Interactions between the apolipoprotein a1/c3/a5 haplotypes and alcohol consumption on serum lipid levels.
}}

{{PMID Auto
|PMID=23065249
|Title=Apolipoprotein A5 polymorphisms in Turkish population: association with serum lipid profile and risk of ischemic stroke.
}}

{{PMID Auto
|PMID=23178747
|Title=Overweight modulates APOE and APOA5 alleles on the risk of severe hypertriglyceridemia.
}}

{{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}}