Genetic variant
rs12048493
rs12048493 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.
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 rs12048493 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 rs12048493, 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
- rs12048493
- Position
- chr1:149955122
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| height (mean, inv-normal transformed) | A | β 0.086 | 3E-89 | PubMed |
| height (minimum, inv-normal transformed) | A | β 0.081 | 7E-84 | PubMed |
| Weight (mean, inv-normal transformed) | A | β 0.046 | 3E-50 | PubMed |
| Weight (maximum, inv-normal transformed) | A | β 0.044 | 5E-46 | PubMed |
| Weight (minimum, inv-normal transformed) | A | β 0.039 | 4E-40 | PubMed |
| Leg fat ratio or breast cancer (pleiotropy) | — | — | 1E-24 | PubMed |
| Weight | C | β 0.017 | 4E-20 | PubMed |
| Neutrophil count | — | OR 0.28 | 6E-19 | PubMed |
| Heel bone mineral density | — | β 0.018 | 1E-17 | PubMed |
| Spinal stenosis (PheCode 720) | A | β 0.062 | 3E-17 | PubMed |
| White blood cell count | — | OR 0.23 | 5E-15 | PubMed |
| Breast cancer | A | OR 0.95 | 4E-14 | PubMed |
| Glaucoma | A | β 0.042 | 5E-14 | PubMed |
| Breast cancer | C | OR 1.04 | 9E-14 | PubMed |
| Primary open angle glaucoma (PheCode 365.11) | A | β 0.078 | 1E-12 | PubMed |
| Open-angle glaucoma (PheCode 365.1) | A | β 0.045 | 2E-12 | PubMed |
| Aortic valve mean gradient | A | β 0.041 | 5E-12 | PubMed |
| Aortic valve peak velocity | A | β 0.04 | 2E-11 | PubMed |
| Lung function (FEV1) and waist circumference adjusted for BMI | A | — | 2E-10 | PubMed |
| Hypertension (confirmatory factor analysis Factor 12) | — | — | 1E-9 | PubMed |
Sources
- dbSNP: rs12048493 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies