Genetic variant
rs2476601
rs2476601 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 rs2476601 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
This important SNP, located in the PTPN22 gene and also known as R620W, C1858T, or 1858C>
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 rs2476601, 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
- rs2476601
- Position
- chr1:113834946
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Hypothyroidism | A | OR 0.38 | 3E-198 | PubMed |
| Hypothyroidism | A | OR 1.41 | 3E-196 | PubMed |
| Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive) | G | OR 0.55 | 5E-174 | PubMed |
| Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive) | G | OR 0.55 | 1E-173 | PubMed |
| Hypothyroidism | — | — | 2E-173 | PubMed |
| Rheumatoid arthritis | A | OR 1.8 | 9E-170 | PubMed |
| Medication use (thyroid preparations) | A | OR 0.41 | 3E-169 | PubMed |
| Medication use (thyroid preparations) | G | OR 0.41 | 3E-169 | PubMed |
| Rheumatoid arthritis | G | OR 0.58 | 4E-169 | PubMed |
| Rheumatoid arthritis | G | OR 0.58 | 4E-168 | PubMed |
| Hypothyroidism | G | OR 0.42 | 2E-165 | PubMed |
| Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive) | A | OR 1.59 | 1E-160 | PubMed |
| Autoimmune thyroid disease | A | OR 1.44 | 2E-160 | PubMed |
| Rheumatoid arthritis | A | OR 0.6 | 2E-149 | PubMed |
| Rheumatoid arthritis | A | OR 1.41 | 4E-144 | PubMed |
| Type 1 diabetes | A | OR 1.72 | 5E-135 | PubMed |
| Rheumatoid arthritis (ACPA-positive) | A | OR 1.82 | 2E-126 | PubMed |
| Autoimmune traits (pleiotropy) | A | — | 6E-119 | PubMed |
| Hypothyroidism | G | OR 0.37 | 2E-117 | PubMed |
| Type 1 diabetes | A | OR 2 | 2E-111 | PubMed |
Sources
- dbSNP: rs2476601 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies