Genetic variant
rs1801020
rs1801020 is a single-letter difference in human DNA, on chromosome 5. Carrying it does not, on its own, mean you have or will develop any condition.
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 rs1801020 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Affects heart disease risk for both men and women, based on a study of two Finnish population cohort...
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 rs1801020, if your test read this position.
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.
What should I do next?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
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
- rs1801020
- Position
- chr5:177409531
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Activated partial thromboplastin time | — | OR 0.31 | 5E-373 | PubMed |
| Thrombin levels | A | OR 0.59 | 7E-364 | PubMed |
| F12 protein levels | — | OR 1.21 | 1E-300 | PubMed |
| Superoxide dismutase [Mn], mitochondrial levels | A | OR 0.55 | 9E-299 | PubMed |
| Activated partial thromboplastin time | G | OR 1.97 | 3E-214 | PubMed |
| RAB6A protein levels | G | OR 0.17 | 6E-176 | PubMed |
| Kininostatin levels | A | OR 0.38 | 8E-146 | PubMed |
| SERPINA5 protein levels | G | OR 0.16 | 1E-136 | PubMed |
| Superoxide dismutase [Mn], mitochondrial levels (SOD2.5008.51.1) | G | OR 0.63 | 5E-128 | PubMed |
| BCL2L11 protein levels | G | OR 0.14 | 4E-106 | PubMed |
| Superoxide dismutase [Mn], mitochondrial levels | A | OR 0.65 | 2E-94 | PubMed |
| Thrombin levels | — | OR 0.46 | 9E-82 | PubMed |
| Metabolite peak levels (QI8556) | G | OR 0.56 | 3E-79 | PubMed |
| SERPINI1 protein levels | G | OR 0.11 | 5E-74 | PubMed |
| Serum lipopolysaccharide activity | G | OR 0.26 | 7E-65 | PubMed |
| Metabolite peak levels (QI7638) | G | OR 0.53 | 1E-64 | PubMed |
| Serum levels of protein PLXDC1 | A | OR 0.32 | 5E-52 | PubMed |
| Serum levels of protein CDH15 | A | OR 0.28 | 1E-43 | PubMed |
| Plasma serine protease inhibitor levels | — | OR 0.33 | 1E-42 | PubMed |
| Bone morphogenetic protein 6 levels | — | OR 0.42 | 4E-39 | PubMed |
Sources
- dbSNP: rs1801020 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies