Genetic variant

rs12190287

rs12190287 is a single-letter difference in human DNA, on chromosome 6. 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 rs12190287 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 rs12190287, 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
rs12190287
Position
chr6:133893387

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Coronary atherosclerosis (PheCode 411.4) C β 0.062 2E-38 PubMed
heart rate (HR, minimum, inv-normal transformed) C β 0.032 3E-36 PubMed
heart rate (HR, minimum, inv-normal transformed) C β 0.034 1E-33 PubMed
Ischemic heart disease (PheCode 411) C β 0.055 4E-32 PubMed
Peak expiratory flow C OR 10.97 5E-28 PubMed
potassium (mean, inv-norm transformed) C β 0.027 1E-27 PubMed
Other chronic ischemic heart disease, unspecified (PheCode 411.8) C β 0.062 4E-27 PubMed
Coronary atherosclerosis (PheCode 411.4) C β 0.063 3E-26 PubMed
Myocardial infarction G β 0.092 3E-25 PubMed
Ischemic heart disease (PheCode 411) C β 0.055 2E-23 PubMed
Coronary artery / coronary heart disease (including heart attack, angina) C β 0.069 6E-23 PubMed
Other chronic ischemic heart disease, unspecified (PheCode 411.8) C β 0.064 1E-20 PubMed
Takes medication for coronary artery/ coronary heart disease? C β 0.069 7E-20 PubMed
Pulse rate (UKB data field 102) G β 0.018 4E-18 PubMed
Coronary artery / coronary heart disease (including heart attack, angina) C β 0.066 1E-17 PubMed
potassium (maximum, inv-norm transformed) C β 0.02 4E-17 PubMed
Heart attack C β 0.064 2E-16 PubMed
High blood pressure / hypertension C β 0.04 3E-16 PubMed
Takes medication for coronary artery/ coronary heart disease? C β 0.065 4E-16 PubMed
FEV1/FVC ratio — — 9E-16 PubMed

Sources