Genetic variant

rs2972144

rs2972144 is a single-letter difference in human DNA, on chromosome 2. 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 rs2972144 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

Circulating 25-Hydroxyvitamin D, IRS1 Variant rs2943641, and Insulin Resistance: Replication of a Gene-Nutrient Interaction in 4 Populations of Different Ancestries

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 rs2972144, 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
rs2972144
Position
chr2:226236695

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Triglyceride to phosphoglyceride ratio G β 0.04 1E-114 PubMed
Triglycerides to Total Lipids in Small HDL percentage G β 0.04 3E-111 PubMed
Cholesterol to Total Lipids in Medium HDL percentage G β 0.04 8E-110 PubMed
Phospholipids to Total Lipids in Medium HDL percentage G β 0.04 1E-107 PubMed
Triglycerides to Total Lipids in Large HDL percentage G β 0.04 6E-104 PubMed
Free Cholesterol to Total Lipids in Medium LDL percentage G β 0.04 4E-97 PubMed
Triglycerides to Total Lipids in Medium HDL percentage G β 0.04 2E-94 PubMed
Average diameter for VLDL particles G β 0.04 6E-92 PubMed
Cholesteryl Esters to Total Lipids in Medium HDL percentage G β 0.04 1E-87 PubMed
Triglycerides in small HDL G β 0.04 2E-87 PubMed
Triglycerides in very large VLDL G β 0.04 6E-80 PubMed
Triglycerides in small VLDL G β 0.04 1E-68 PubMed
Concentration of very large VLDL particles G β 0.04 3E-68 PubMed
Triglycerides in VLDL G β 0.04 2E-67 PubMed
Total lipids in very large VLDL G β 0.04 1E-66 PubMed
Phospholipid levels in chylomicrons and extremely large VLDL G β 0.03 2E-65 PubMed
Total triglycerides levels G β 0.04 3E-65 PubMed
Concentration of chylomicrons and extremely large VLDL particles G β 0.03 5E-64 PubMed
Phospholipids in large VLDL G β 0.03 3E-62 PubMed
Free cholesterol levels in chylomicrons and extremely large VLDL G β 0.03 3E-60 PubMed

Sources