Genetic variant
rs17391694
rs17391694 is a single-letter difference in human DNA, on chromosome 1. 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 rs17391694 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 rs17391694, 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
- rs17391694
- Position
- chr1:78157942
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Height | T | β 0.034 | 3E-249 | PubMed |
| Body mass index | C | β 0.033 | 3E-64 | PubMed |
| Whole body fat free mass (UKB data field 23101) | T | β 0.026 | 8E-42 | PubMed |
| Body mass index | C | β 0.029 | 4E-28 | PubMed |
| Whole body fat mass (UKB data field 23100) | T | β 0.037 | 2E-27 | PubMed |
| Body mass index | T | β 0.035 | 7E-24 | PubMed |
| Height | T | β 0.04 | 6E-22 | PubMed |
| Cystatin C levels | T | β 0.032 | 7E-20 | PubMed |
| Metabolic syndrome | — | β 0.019 | 1E-17 | PubMed |
| Diastolic blood pressure | T | OR 0.17 | 1E-17 | PubMed |
| Diastolic blood pressure | T | OR 0.2 | 5E-17 | PubMed |
| Height | T | β 0.043 | 4E-16 | PubMed |
| Body fat percentage (adjusted for testosterone and SHBG) | — | OR 0.23 | 3E-15 | PubMed |
| Multi-trait sex score | — | — | 7E-15 | PubMed |
| Hand grip strength | T | β 0.003 | 3E-12 | PubMed |
| Height | T | β 0.042 | 2E-11 | PubMed |
| Diastolic blood pressure | T | OR 0.2 | 2E-10 | PubMed |
| Bipolar disorder or glomerular filtration rate estimated from creatine (MTAG) | — | — | 2E-10 | PubMed |
| C-reactive protein levels (MTAG) | T | β 0.019 | 3E-10 | PubMed |
| Age at first birth | T | β 0.083 | 8E-10 | PubMed |
Sources
- dbSNP: rs17391694 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies