Genetic variant
rs2111485
rs2111485 is a single-letter difference in human DNA, on chromosome 2. 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 rs2111485 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 rs2111485, 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
- rs2111485
- Position
- chr2:162254026
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Hypothyroidism | G | β 0.053 | 1E-44 | PubMed |
| Hypothyroidism | G | β 0.061 | 3E-35 | PubMed |
| BST2 protein levels | G | β 0.06 | 2E-28 | PubMed |
| Vitiligo | G | OR 1.3 | 6E-25 | PubMed |
| Hypothyroidism | A | β 0.078 | 1E-21 | PubMed |
| Hypothyroidism | G | OR 1.08 | 4E-21 | PubMed |
| White blood cell count | G | — | 1E-20 | PubMed |
| Psoriatic arthritis | G | OR 1.25 | 1E-20 | PubMed |
| white blood cell count (WBC, mean, inv-norm transformed) | A | β 0.025 | 4E-19 | PubMed |
| SIGLEC1 protein levels | G | β 0.047 | 6E-19 | PubMed |
| Type 1 diabetes | G | OR 1.18 | 4E-18 | PubMed |
| Lymphocyte count | G | β 0.017 | 4E-18 | PubMed |
| Systemic lupus erythematosus (MTAG) | A | β 0.066 | 2E-17 | PubMed |
| Hypothyroidism | — | — | 2E-17 | PubMed |
| Eosinophil count | G | β 0.019 | 6E-17 | PubMed |
| Eosinophil count | — | — | 7E-17 | PubMed |
| Psoriasis (PheCode 696.4) | A | β 0.092 | 1E-16 | PubMed |
| Psoriasis vulgaris (PheCode 696.41) | A | β 0.093 | 4E-16 | PubMed |
| Psoriasis (PheCode 696.4) | A | β 0.092 | 5E-16 | PubMed |
| Psoriasis and related disorder (PheCode 696) | A | β 0.089 | 7E-16 | PubMed |
Sources
- dbSNP: rs2111485 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies