Genetic variant
rs3197999
rs3197999 is a single-letter difference in human DNA, on chromosome 3. 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 rs3197999 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
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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 rs3197999, 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
- rs3197999
- Position
- chr3:49684099
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Hepatocyte growth factor-like protein levels | A | OR 1.2 | 2E-332 | PubMed |
| Hepatocyte growth factor-like protein levels | A | OR 1.21 | 4E-303 | PubMed |
| Serum levels of protein LHCGR | A | OR 0.62 | 1E-258 | PubMed |
| Indoleamine 2,3-dioxygenase 1 levels | A | OR 0.38 | 1E-155 | PubMed |
| Leukocyte cell-derived chemotaxin 1 levels | A | OR 0.35 | 3E-131 | PubMed |
| G3XAK1 protein level (protein group normalized intensity) | A | OR 0.78 | 2E-119 | PubMed |
| Transmembrane protease serine 11D levels (TMPRSS11D.6547.83.3) | A | OR 0.53 | 3E-96 | PubMed |
| Interleukin-23 receptor levels | A | OR 0.28 | 5E-90 | PubMed |
| Serum levels of protein TMPRSS11D | A | OR 0.31 | 2E-61 | PubMed |
| Chronic inflammatory diseases (ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | — | — | 7E-55 | PubMed |
| Tensin-2 levels | A | OR 0.22 | 8E-49 | PubMed |
| Tensin-2 levels (TNS2.11667.29.3) | A | OR 0.38 | 4E-48 | PubMed |
| Inflammatory bowel disease | A | OR 1.18 | 1E-47 | PubMed |
| Regenerating islet-derived protein 3-alpha protein levels (SomaScan ID:4407-10) | A | OR 1.2 | 3E-46 | PubMed |
| Ulcerative colitis | A | OR 1.19 | 2E-37 | PubMed |
| Inflammatory bowel disease | — | — | 1E-33 | PubMed |
| Crohn's disease | A | OR 1.17 | 2E-33 | PubMed |
| Erythrocyte band 7 integral membrane protein levels | A | OR 0.17 | 4E-31 | PubMed |
| Dedicator of cytokinesis protein 9 levels (DOCK9.14002.18.3) | A | OR 0.3 | 1E-28 | PubMed |
| Primary sclerosing cholangitis | A | OR 1.33 | 2E-26 | PubMed |
Sources
- dbSNP: rs3197999 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies