Genetic variant

rs12041331

rs12041331 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 rs12041331 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

Identification of a specific intronic PEAR1 gene variant associated with greater platelet aggregability and protein expression

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 rs12041331, 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
rs12041331
Position
chr1:156899922

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Mean platelet volume during third trimester of pregnancy A OR 0.36 1E-315 PubMed
Platelet count during third trimester of pregnancy A OR 0.26 4E-163 PubMed
Mean platelet thrombocyte volume (UKB data field 30100) A β 0.079 5E-153 PubMed
Mean platelet volume at delivery A OR 0.38 1E-147 PubMed
Mean platelet volume G — 1E-145 PubMed
Mean platelet volume G β 0.082 1E-126 PubMed
Mean platelet volume during second trimester of pregnancy A OR 0.22 1E-114 PubMed
mean platelet volume (MPV, mean, inv-norm transformed) G OR 0.11 5E-93 PubMed
Platelet count A β 0.038 3E-92 PubMed
mean platelet volume (MPV, maximum, inv-norm transformed) G β 0.089 3E-91 PubMed
mean platelet volume (MPV, mean, inv-norm transformed) G β 0.089 2E-90 PubMed
Mean platelet volume A β 0.078 3E-84 PubMed
mean platelet volume (MPV, minimum, inv-norm transformed) G β 0.079 2E-74 PubMed
mean platelet volume (MPV, minimum, inv-norm transformed) G β 0.095 4E-69 PubMed
Mean platelet volume during the postpartum period A OR 0.19 2E-66 PubMed
Platelet count A — 3E-49 PubMed
mean platelet volume (MPV, mean, inv-norm transformed) G β 0.078 8E-46 PubMed
mean platelet volume (MPV, maximum, inv-norm transformed) G β 0.077 3E-44 PubMed
mean platelet volume (MPV, minimum, inv-norm transformed) G β 0.071 5E-39 PubMed
Platelet count A β 0.034 5E-38 PubMed

Sources