Genetic variant

rs2228467

rs2228467 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 rs2228467 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

We hold only the basic reference record for this variant: its ID and position. Many catalogued variants have never been linked to anything.

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 rs2228467, 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
rs2228467
Position
chr3:42864624

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Monocyte count C OR 0.16 4E-361 PubMed
Monocyte count C — 7E-361 PubMed
Monocyte count (UKB data field 30130) C OR 0.13 1E-271 PubMed
CCL17 protein levels C OR 0.38 6E-261 PubMed
CCL17/CCL22 protein level ratio — OR 0.49 1E-259 PubMed
monocyte (fraction, mean, inv-norm transformed) T OR 0.21 9E-258 PubMed
CCL11 protein levels C OR 0.36 6E-241 PubMed
Monocyte percentage (UKB data field 30190) C OR 0.13 1E-240 PubMed
CCL17/GRK5 protein level ratio — OR 0.46 1E-225 PubMed
Monocyte count C OR 0.15 2E-218 PubMed
monocyte (absolute count, mean, inv-norm transformed) T OR 0.21 3E-217 PubMed
Monocyte count C OR 0.15 2E-211 PubMed
Monocyte percentage of white cells C OR 0.14 4E-192 PubMed
monocyte (fraction, maximum, inv-norm transformed) T OR 0.16 1E-151 PubMed
monocyte (fraction, mean, inv-norm transformed) T OR 0.2 6E-147 PubMed
monocyte (absolute count, minimum, inv-norm transformed) T OR 0.16 2E-141 PubMed
monocyte (absolute count, maximum, inv-norm transformed) T OR 0.15 2E-128 PubMed
monocyte (fraction, minimum, inv-norm transformed) T OR 0.15 5E-128 PubMed
CCL7 protein levels C OR 0.28 2E-127 PubMed
monocyte (absolute count, mean, inv-norm transformed) T OR 0.19 2E-124 PubMed

Sources