Genetic variant

rs994014

rs994014 is a single-letter difference in human DNA, on chromosome 4. 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 rs994014 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 rs994014, 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
rs994014
Position
chr4:81244636

Genome-wide association studies (15)

TraitRisk alleleOR / betaP-valueStudy
Height C β 0.048 1E-300 PubMed
Height C β 0.049 1E-300 PubMed
Height T β 0.042 2E-244 PubMed
Height — — 6E-146 PubMed
Height C β 0.058 6E-141 PubMed
Standing height (UKB data field 50) C β 0.028 1E-134 PubMed
Height (baseline) T β 0.032 1E-118 PubMed
Body surface area — β 0.005 3E-30 PubMed
Hip circumference adjusted for BMI C β 0.034 4E-28 PubMed
Body fat distribution (trunk fat ratio) C β 0.023 1E-17 PubMed
Height — β 0.048 3E-14 PubMed
Body fat distribution (leg fat ratio) C β 0.019 2E-13 PubMed
Waist circumference adjusted for body mass index C β 0.023 3E-13 PubMed
Height T β 0.054 8E-10 PubMed
Head length to body height ratio — β 0 3E-8 PubMed

Sources