Genetic variant
rs143384
rs143384 is a single-letter difference in human DNA, on chromosome 20. 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 rs143384 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 rs143384, 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
- rs143384
- Position
- chr20:35437976
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Height | — | β 0.08 | 3E-452 | PubMed |
| Height | G | β 0.057 | 3E-379 | PubMed |
| Appendicular lean mass | A | β 0.073 | 7E-319 | PubMed |
| Height | A | β 0.08 | 1E-300 | PubMed |
| Height | A | β 0.079 | 1E-300 | PubMed |
| Anthropometric traits | G | β 0.064 | 9E-292 | PubMed |
| Height | A | β 0.082 | 6E-285 | PubMed |
| Physical function (baseline) | A | β 0.031 | 4E-185 | PubMed |
| Whole body water mass (UKB data field 23102) | G | β 0.031 | 3E-172 | PubMed |
| Anthropometric traits (multi-trait analysis) | — | — | 1E-170 | PubMed |
| Basal metabolic rate (UKB data field 23105) | G | β 0.031 | 5E-151 | PubMed |
| Body size (confirmatory factor analysis Factor 21) | — | — | 1E-136 | PubMed |
| Body surface area | — | β 0.01 | 5E-134 | PubMed |
| Whole body fat free mass (UKB data field 23101) | G | β 0.033 | 2E-133 | PubMed |
| Height | A | β 0.067 | 7E-122 | PubMed |
| Height | A | β 0.075 | 1E-121 | PubMed |
| Hip circumference adjusted for BMI | G | β 0.064 | 1E-92 | PubMed |
| Weight | A | β 0.025 | 9E-78 | PubMed |
| Weight (UKB data field 21002) | G | β 0.028 | 1E-66 | PubMed |
| Multi-trait sex score | — | — | 3E-65 | PubMed |
Sources
- dbSNP: rs143384 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies