Genetic variant

rs5082

rs5082 is a single-letter difference in human DNA, on chromosome 1. Carrying it does not, on its own, mean you have or will develop any condition.

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What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs5082 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

rs5082 is a SNP in the apolipoprotein APOA2 gene, and may influence obesity and heart disease risk. ...

From SNPedia

Why might it matter?

ClinVar holds no clinical classification for this variant. That is the usual case: most catalogued variants have no known effect on health.

Do I have this variant?

If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs5082, if your test read this position.

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Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

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What should I do next?

  1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
  2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
  3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
  4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
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This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID
rs5082
Position
chr1:161223893

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Concentration of large HDL particles A β 0.02 2E-39 PubMed
Free cholesterol to total lipids ratio in small HDL G β 0.049 1E-33 PubMed
Concentration of very large HDL particles G β 0.046 2E-33 PubMed
Free cholesterol levels in very large HDL G β 0.047 7E-33 PubMed
Phospholipids to Total Lipids in Medium LDL percentage A β 0.02 5E-32 PubMed
Total lipid levels in very large HDL G β 0.042 2E-28 PubMed
Phospholipid levels in very large HDL G β 0.042 9E-28 PubMed
Triglycerides in very large HDL A β 0.045 7E-27 PubMed
Cholesterol levels in very large HDL G β 0.04 8E-26 PubMed
Free cholesterol to total lipids ratio in large HDL G β 0.041 2E-25 PubMed
Free cholesterol to total lipids in small HDL percentage (UKB data field 23647) G β 0.047 5E-24 PubMed
Cholesteryl ester levels in very large HDL G β 0.038 3E-23 PubMed
Phospholipids to total lipids in large HDL percentage (UKB data field 23634) G β 0.047 6E-23 PubMed
Concentration of very large HDL particles (UKB data field 23551) G β 0.044 1E-22 PubMed
Free cholesterol in very large HDL (UKB data field 23556) G β 0.044 4E-22 PubMed
Phospholipids to total lipids ratio in very large HDL G β 0.036 1E-19 PubMed
Cholesterol to total lipids ratio in very large HDL G β 0.036 3E-19 PubMed
Total lipids in very large HDL (UKB data field 23552) G β 0.04 6E-19 PubMed
Phospholipids in very large HDL (UKB data field 23553) G β 0.039 1E-18 PubMed
Average diameter for HDL particles G β 0.033 2E-18 PubMed

Sources