Genetic variant
rs1481012
rs1481012 is a single-letter difference in human DNA, on chromosome 4. 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 rs1481012 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
A gene-wide investigation on polymorphisms in the ABCG2/BRCP transporter and susceptibility to color...
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 rs1481012, 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
- rs1481012
- Position
- chr4:88117930
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Urate levels | A | OR 0.25 | 7E-353 | PubMed |
| Gout (PheCode 274.1) | A | OR 0.54 | 1E-323 | PubMed |
| Takes medication for gout? | A | OR 0.57 | 1E-323 | PubMed |
| Takes medication for gout? | A | OR 0.58 | 1E-323 | PubMed |
| 3,5-dichloro-2,6-dihydroxybenzoic acid levels | G | OR 0.48 | 3E-42 | PubMed |
| Gout | A | OR 0.55 | 2E-32 | PubMed |
| Metabolite levels (3-bromo-5-chloro-2,6-dihydroxybenzoic acid) | G | OR 0.49 | 2E-26 | PubMed |
| Hyperuricemia in low vitamin C intake | G | OR 1.48 | 2E-24 | PubMed |
| Glycated haemoglobin HbA1c levels (UKB data field 30750) | G | β 0.025 | 4E-19 | PubMed |
| Brain morphology (MOSTest) | — | — | 2E-18 | PubMed |
| Response to statins (LDL cholesterol change) | — | OR 5.1 | 2E-15 | PubMed |
| Plasma 3-bromo-5-chloro-2,6-dihydroxybenzoic acid* levels in chronic kidney disease | G | OR 0.25 | 2E-15 | PubMed |
| Caffeine consumption from tea | A | β 0.026 | 2E-13 | PubMed |
| X-12026 levels | A | OR 0.12 | 3E-13 | PubMed |
| Body mass index | A | β 0.019 | 5E-13 | PubMed |
| Coffee consumption (cups per day) | G | β 0.066 | 2E-12 | PubMed |
| red cell diameter width (RDW, mean, inv-norm transformed) | A | β 0.03 | 4E-12 | PubMed |
| Brain morphology (MOSTest) | — | — | 1E-11 | PubMed |
| Gout | G | — | 2E-11 | PubMed |
| red cell diameter width (RDW, maximum, inv-norm transformed) | A | β 0.028 | 2E-11 | PubMed |
Sources
- dbSNP: rs1481012 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies