Genetic variant
rs12720356
rs12720356 is a single-letter difference in human DNA, on chromosome 19. 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 rs12720356 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with ...
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 rs12720356, 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
- rs12720356
- Position
- chr19:10359299
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| IFNAR1 protein levels | C | OR 0.17 | 2E-83 | PubMed |
| BST2 protein levels | C | OR 0.12 | 1E-40 | PubMed |
| IL12RB1 protein levels | C | OR 0.11 | 5E-36 | PubMed |
| Height | C | β 0.013 | 4E-30 | PubMed |
| Inflammatory bowel disease | — | OR 0.15 | 3E-16 | PubMed |
| Inflammatory bowel disease | C | OR 1.16 | 4E-16 | PubMed |
| Interferon alpha/beta receptor 1 levels | A | OR 0.18 | 3E-14 | PubMed |
| Crohn's disease | G | OR 1.12 | 1E-12 | PubMed |
| Ulcerative colitis | C | OR 1.17 | 2E-11 | PubMed |
| Crohn's disease | C | OR 1.15 | 3E-11 | PubMed |
| Psoriasis | A | OR 1.4 | 4E-11 | PubMed |
| Psoriasis | A | OR 1.25 | 3E-10 | PubMed |
| Rheumatoid arthritis | C | OR 0.9 | 4E-10 | PubMed |
| Ulcerative colitis | — | OR 0.14 | 5E-10 | PubMed |
| Whole body fat free mass (UKB data field 23101) | C | β 0.014 | 6E-10 | PubMed |
| Crohn's disease | — | OR 0.15 | 1E-9 | PubMed |
| Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive) | C | OR 0.87 | 2E-9 | PubMed |
| Chronic inflammatory diseases (ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | — | — | 2E-9 | PubMed |
| Ulcerative colitis vs rheumatoid arthritis (ordinary least squares (OLS)) | — | β 0.05 | 4E-9 | PubMed |
| Rheumatoid arthritis | C | OR 0.87 | 8E-9 | PubMed |
Sources
- dbSNP: rs12720356 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies