Genetic variant
rs1800629 a variant in the TNF gene
rs1800629 is a single-letter difference in the TNF gene, on chromosome 6. ClinVar, the public archive of variant interpretations, lists it as drug response: linked to how the body handles certain medicines. It has been reported in connection with etanercept response - Efficacy and Susceptibility to severe coronavirus disease (COVID-19), among others. 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 rs1800629 is the catalogue number of one of them, in the TNF gene. Which letters you carry there — one copy from each parent — is your genotype.
TNF (tumor necrosis factor): This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR.
Gene description from NCBI Gene
This SNP in the tumor necrosis factor-alpha gene, rs1800629, is also known as the TNF-308 SNP. Occas...
From SNPedia
Why might it matter?
ClinVar records this variant as drug response, meaning linked to how the body handles certain medicines. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.
Conditions it has been reported with
- etanercept response - Efficacy
- Susceptibility to severe coronavirus disease (COVID-19)
- Human immunodeficiency virus dementia
- Susceptibility to
- Psoriatic arthritis, susceptibility to
- Systemic lupus erythematosus
- Inherited susceptibility to asthma
- Malaria, cerebral
- Endometriosis
- Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF
- Tnfr, and/or TNFR4
Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.
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 rs1800629, 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
- rs1800629
- Gene
- TNF
- Position (GRCh38)
- chr6:31575253
- Variant type
- snv
- Consequence
- regulatory region variant
- ClinVar classification
- drug response
Genome-wide association studies (7)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| MHC class I polypeptide-related sequence B levels | A | OR 0.42 | 3E-28 | PubMed |
| Omega-3 fatty acid levels | A | — | 5E-24 | PubMed |
| Pulse pressure | A | OR 0.29 | 8E-19 | PubMed |
| Docosahexaenoic acid levels | A | — | 3E-15 | PubMed |
| Omega-3 fatty acid levels | A | — | 1E-14 | PubMed |
| Waist-to-hip ratio adjusted for BMI | A | β 0.027 | 3E-12 | PubMed |
| Docosahexaenoic acid levels | A | — | 4E-8 | PubMed |
How common the less frequent letter is
- gnomAD ALL
- 87.2%
- 1kG AFR
- 88%
- 1kG ALL
- 91%
- 1kG AMR
- 6.9%
- 1kG EAS
- 5.9%
- 1kG EUR
- 13.4%
- 1kG SAS
- 5.3%
Sources
- dbSNP: rs1800629 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: TNF
- Ensembl: TNF
- GWAS Catalog — association studies