Genetic variant

rs2239704 a variant in the LTA gene

rs2239704 is a single-letter difference in the LTA gene, on chromosome 6. ClinVar, the public archive of variant interpretations, lists it as risk factor: linked to a somewhat higher chance of a condition, not a cause on its own. It has been reported in connection with Leprosy, early-onset, susceptibility to. 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 rs2239704 is the catalogue number of one of them, in the LTA gene. Which letters you carry there — one copy from each parent — is your genotype.

LTA (lymphotoxin alpha): The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface.

Gene description from NCBI Gene

A US study of 1,172 lymphoma patients and 982 controls looked at 57 SNPs in 36 immune function genes...

From SNPedia

Why might it matter?

ClinVar records this variant as risk factor, meaning linked to a somewhat higher chance of a condition, not a cause on its own. 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 rs2239704, 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
rs2239704
Gene
LTA
Position
chr6:31572364
ClinVar classification
risk factor

Genome-wide association studies (5)

TraitRisk alleleOR / betaP-valueStudy
Eosinophil percentage of white cells variance A β 0.026 4E-27 PubMed
Eosinophil count variance A β 0.023 4E-21 PubMed
C-reactive protein levels A β 0.016 1E-14 PubMed
Monocyte count A β 0.018 2E-12 PubMed
Cervical cancer A OR 1.23 6E-9 PubMed

Sources