Genetic variant
rs9594738
rs9594738 is a single-letter difference in human DNA, on chromosome 13. 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 rs9594738 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs9594738 increases susceptibility to Bone mineral density variations, lower for carriers of the T a...
From SNPedia
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 rs9594738, 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
- rs9594738
- Position
- chr13:42378009
Genome-wide association studies (17)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Heel bone mineral density | C | β 0.059 | 8E-170 | PubMed |
| Heel bone mineral density | — | β 0.052 | 7E-145 | PubMed |
| Heel bone mineral density | — | — | 3E-144 | PubMed |
| DMP1 protein levels | T | β 0.079 | 1E-49 | PubMed |
| SOST/SPP1 protein level ratio | — | β 0.099 | 1E-49 | PubMed |
| OMD/SOST protein level ratio | — | β 0.092 | 9E-44 | PubMed |
| COL5A1 protein levels | T | β 0.069 | 1E-35 | PubMed |
| SOST protein levels | T | β 0.058 | 6E-35 | PubMed |
| Bone mineral density (spine) | — | — | 1E-33 | PubMed |
| Total body bone mineral density | T | β 0.072 | 5E-31 | PubMed |
| Osteoporosis | T | OR 0.14 | 4E-16 | PubMed |
| Medication use (drugs affecting bone structure and mineralization) | T | OR 0.13 | 3E-15 | PubMed |
| Medication use (drugs affecting bone structure and mineralization) | T | OR 0.13 | 3E-15 | PubMed |
| Serum sclerostin levels | T | β 0.056 | 6E-14 | PubMed |
| Ultradistal forearm bone mineral density | — | β 0.073 | 6E-12 | PubMed |
| Bone mineral density (hip) | T | β 0.1 | 2E-8 | PubMed |
| Bone mineral density | T | OR 0.15 | 4E-6 | PubMed |
Sources
- dbSNP: rs9594738 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies