Genetic variant
rs754388
rs754388 is a single-letter difference in human DNA, on chromosome 14. Carrying it does not, on its own, mean you have or will develop any condition.
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 rs754388 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 rs754388, if your test read this position.
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.
What should I do next?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
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
- rs754388
- Position
- chr14:92649065
Genome-wide association studies (19)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Monocyte count | C | β 0.03 | 6E-36 | PubMed |
| Monocyte count | C | — | 9E-34 | PubMed |
| Monocyte count (UKB data field 30130) | C | β 0.025 | 9E-28 | PubMed |
| Monocyte count | G | β 0.027 | 1E-20 | PubMed |
| Chronic obstructive pulmonary disease | C | OR 1.15 | 5E-14 | PubMed |
| Hip index | G | β 0.028 | 1E-11 | PubMed |
| Chronic obstructive pulmonary disease or resting heart rate (pleiotropy) | — | — | 1E-11 | PubMed |
| Hypothyroidism | C | β 0.033 | 3E-11 | PubMed |
| Bone mineral density (paediatric, lower limb) | C | OR 0.14 | 2E-9 | PubMed |
| Bone mineral density (paediatric, total body less head) | C | OR 0.12 | 3E-9 | PubMed |
| Chronic obstructive pulmonary disease (moderate to severe) | C | — | 5E-9 | PubMed |
| Post bronchodilator FEV1/FVC ratio | C | β 0.014 | 6E-9 | PubMed |
| FEV1 x serum 25-hydroxyvitamin D interaction in ever smokers (2df test) | G | — | 1E-8 | PubMed |
| Height | G | β 0.005 | 2E-8 | PubMed |
| TB-LM or TBLH-BMD (pleiotropy) | G | — | 3E-8 | PubMed |
| Chronic obstructive pulmonary disease (severe) | C | — | 7E-8 | PubMed |
| Local histogram emphysema pattern | C | — | 3E-7 | PubMed |
| Chronic obstructive pulmonary disease | C | OR 1.29 | 1E-6 | PubMed |
| Bone mineral density (paediatric, total body less head) | G | β 0.086 | 3E-6 | PubMed |
Sources
- dbSNP: rs754388 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies