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

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?

  1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
  2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
  3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
  4. 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)

TraitRisk alleleOR / betaP-valueStudy
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