Genetic variant

rs2954038

rs2954038 is a single-letter difference in human DNA, on chromosome 8. 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 rs2954038 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 rs2954038, 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
rs2954038
Position
chr8:125495147

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
triglyceride (minimum, inv-norm transformed) C OR 0.12 3E-298 PubMed
Triglyceride levels A β 0.094 1E-285 PubMed
Apolipoprotein B levels A β 0.081 2E-208 PubMed
Omega-6 fatty acids to total fatty acids percentage A OR 0.1 1E-204 PubMed
high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) C β 0.093 2E-197 PubMed
high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) C β 0.093 6E-195 PubMed
Free Cholesterol to Total Lipids in Small LDL percentage A β 0.093 8E-179 PubMed
Low density lipoprotein cholesterol levels A β 0.072 1E-165 PubMed
Cholesterol to Total Lipids in Small HDL percentage A β 0.087 4E-156 PubMed
Total cholesterol levels A β 0.069 2E-154 PubMed
Total cholesterol levels A β 0.078 7E-148 PubMed
Linoleic acid to total fatty acids percentage A β 0.083 1E-139 PubMed
Triglycerides to Total Lipids in Large LDL percentage A β 0.081 6E-139 PubMed
Polyunsaturated fatty acids to total fatty acids percentage A β 0.08 6E-125 PubMed
Polyunsaturated fatty acids to monounsaturated fatty acids ratio A β 0.078 5E-124 PubMed
Omega-6 fatty acids to total fatty acids percentage A β 0.069 3E-121 PubMed
High-density lipoprotein levels A β 0.04 6E-112 PubMed
High density lipoprotein cholesterol levels A β 0.043 1E-103 PubMed
Free Cholesterol to Total Lipids in Small LDL percentage A β 0.062 6E-99 PubMed
Free Cholesterol to Total Lipids in IDL percentage A β 0.069 2E-95 PubMed

Sources