Genetic variant

rs4129267

rs4129267 is a single-letter difference in human DNA, on chromosome 1. Carrying it does not, on its own, mean you have or will develop any condition.

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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 rs4129267 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

A 2012 educational article explained that in autoimmune inflammatory conditions, IL-6 promotes antib...

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 rs4129267, if your test read this position.

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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.

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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.
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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
rs4129267
Position
chr1:154453788

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Interleukin-6 receptor subunit alpha levels (IL6R.4139.71.2) T OR 1.1 6E-1040 PubMed
IL6 protein levels T OR 0.21 2E-311 PubMed
Interleukin-6 receptor subunit alpha levels T OR 1.14 4E-303 PubMed
Blood protein levels in cardiovascular risk T OR 0.81 2E-297 PubMed
Interleukin-6 receptor subunit alpha levels T OR 1.21 2E-265 PubMed
C-reactive protein levels C β 0.088 1E-129 PubMed
Interleukin-6 receptor subunit alpha levels T OR 0.84 4E-58 PubMed
Protein quantitative trait loci — — 2E-57 PubMed
C-reactive protein levels C β 0.079 2E-48 PubMed
Fibrinogen levels or factor VII levels or factor XI levels or tissue plasminogen activator levels (pleiotropy) — — 2E-38 PubMed
Fibrinogen levels or tissue plasminogen activator levels (pleiotropy) — — 2E-37 PubMed
Fibrinogen levels or plasminogen activator inhibitor 1 levels (pleiotropy) — — 4E-37 PubMed
C-reactive protein levels — OR 0.11 1E-33 PubMed
Fibrinogen T β 0.011 6E-27 PubMed
C-reactive protein levels A OR 0.12 2E-26 PubMed
mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed) C β 0.033 9E-23 PubMed
C-reactive protein levels T β 0.082 8E-22 PubMed
Atopic dermatitis — β 0.069 4E-20 PubMed
mean corpuscular volume (MCV, maximum, inv-norm transformed) C β 0.029 2E-18 PubMed
Chronic inflammatory diseases (ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) — — 9E-18 PubMed

Sources