APOA5 Chromosome 11
Apolipoprotein A5
Upload your DNA to see your personal genotypes for variants in APOA5.
What This Gene Does
The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Apolipoproteins
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000110243
Associated Conditions (6)
Cardiovascular phenotype
APOA5-related disorder
Familial type 5 hyperlipoproteinemia
Hypertriglyceridemia 1
Hypertriglyceridemia
Hyperlipoproteinemia
Key Variants
RS1365337213
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1403296082
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS143292359
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS147528707
Conflicting classifications of pathogenicity
APOA5-related disorder, APOA5-related disorder
Health Risk
RS1477198098
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS148778842
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS149808404
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Familial type 5 hyperlipoproteinemia, Hypertriglyceridemia 1
Health Risk
RS2075291
Conflicting classifications of pathogenicity
Hypertriglyceridemia 1, Cardiovascular phenotype, Hypertriglyceridemia 1
Health Risk
RS34832733
Conflicting classifications of pathogenicity
Health Risk
RS574363219
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS764366547
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS76753536
Conflicting classifications of pathogenicity
Familial type 5 hyperlipoproteinemia, Hypertriglyceridemia 1, Cardiovascular phenotype
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1365337213 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1403296082 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS143292359 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS147528707 | Health Risk | Conflicting classifications of pathogenicity | APOA5-related disorder, APOA5-related disorder |
| RS1477198098 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS148778842 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS149808404 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Familial type 5 hyperlipoproteinemia, Hypertriglyceridemia 1 |
| RS2075291 | Health Risk | Conflicting classifications of pathogenicity | Hypertriglyceridemia 1, Cardiovascular phenotype, Hypertriglyceridemia 1 |
| RS34832733 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS574363219 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS764366547 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS76753536 | Health Risk | Conflicting classifications of pathogenicity | Familial type 5 hyperlipoproteinemia, Hypertriglyceridemia 1, Cardiovascular phenotype |
| RS777046568 | Health Risk | Conflicting classifications of pathogenicity | Familial type 5 hyperlipoproteinemia, Cardiovascular phenotype, Familial type 5 hyperlipoproteinemia |
| RS1341621315 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1941014739 | Health Risk | Likely pathogenic | Familial type 5 hyperlipoproteinemia, Familial type 5 hyperlipoproteinemia |
| RS2134202766 | Health Risk | Likely pathogenic | — |
| RS755144803 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS758216033 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS761704440 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS121917821 | Health Risk | Pathogenic | Familial type 5 hyperlipoproteinemia, Familial type 5 hyperlipoproteinemia |
| RS1940989106 | Health Risk | Pathogenic | Familial type 5 hyperlipoproteinemia, Familial type 5 hyperlipoproteinemia |
| RS201079485 | Health Risk | Pathogenic | Hypertriglyceridemia 1, Hypertriglyceridemia, Familial type 5 hyperlipoproteinemia |
| RS2540246645 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS774150500 | Health Risk | Pathogenic/Likely pathogenic | Hypertriglyceridemia 1, Familial type 5 hyperlipoproteinemia, Cardiovascular phenotype |