Genetic variant
rs12701220
rs12701220 is a single-letter difference in human DNA, on chromosome 7. 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 rs12701220 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
We hold only the basic reference record for this variant: its ID and position. Many catalogued variants have never been linked to anything.
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 rs12701220, 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
- rs12701220
- Position
- chr7:983092
Genome-wide association studies (16)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Free cholesterol to total lipids ratio in small VLDL | T | β 0.042 | 4E-18 | PubMed |
| Cholesteryl esters in very small VLDL (UKB data field 23520) | C | β 0.047 | 8E-17 | PubMed |
| Cholesterol in very small VLDL (UKB data field 23519) | C | β 0.046 | 2E-16 | PubMed |
| Total lipids in very small VLDL (UKB data field 23517) | C | β 0.044 | 1E-14 | PubMed |
| Free cholesterol in very small VLDL (UKB data field 23521) | C | β 0.044 | 2E-14 | PubMed |
| Concentration of very small VLDL particles (UKB data field 23516) | C | β 0.043 | 4E-14 | PubMed |
| Phospholipids in very small VLDL (UKB data field 23518) | C | β 0.042 | 2E-13 | PubMed |
| Phospholipids in IDL (UKB data field 23525) | C | β 0.041 | 3E-13 | PubMed |
| Total lipids in IDL (UKB data field 23524) | C | β 0.039 | 4E-12 | PubMed |
| Free cholesterol in IDL (UKB data field 23528) | C | β 0.036 | 1E-10 | PubMed |
| Total cholines levels (UKB data field 23436) | C | β 0.035 | 2E-10 | PubMed |
| Cholesterol in IDL (UKB data field 23526) | C | β 0.036 | 2E-10 | PubMed |
| Cholesteryl esters in IDL (UKB data field 23527) | C | β 0.035 | 3E-10 | PubMed |
| Sphingomyelins levels (UKB data field 23438) | C | β 0.034 | 4E-10 | PubMed |
| Total phospholipids in lipoprotein particles (UKB data field 23411) | C | β 0.034 | 1E-9 | PubMed |
| Bronchopulmonary dysplasia | G | OR 1.54 | 3E-6 | PubMed |
Sources
- dbSNP: rs12701220 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies