Genetic variant
rs687621
rs687621 is a single-letter difference in human DNA, on chromosome 9. 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 rs687621 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 rs687621, 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
- rs687621
- Position
- chr9:133261662
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Factor VIII levels | — | — | 1E-647 | PubMed |
| C1QTNF1/VWF protein level ratio | — | OR 0.37 | 2E-558 | PubMed |
| TINAGL1/VWF protein level ratio | — | OR 0.35 | 6E-491 | PubMed |
| Coronary artery disease or factor VIII levels (pleiotropy) | — | — | 5E-324 | PubMed |
| vWF levels | — | OR 24.1 | 5E-324 | PubMed |
| CDH17/SPINT1 protein level ratio | — | OR 0.22 | 2E-190 | PubMed |
| CA9/CBLIF protein level ratio | — | OR 0.21 | 1E-178 | PubMed |
| FCGR2B protein levels | G | OR 0.16 | 2E-165 | PubMed |
| IL18BP/THBD protein level ratio | — | OR 0.18 | 5E-136 | PubMed |
| EPHB4/EPHB6 protein level ratio | — | OR 0.17 | 1E-121 | PubMed |
| Activated partial thromboplastin time | A | OR 0.82 | 9E-100 | PubMed |
| Serum levels of protein F8 | G | OR 0.38 | 1E-78 | PubMed |
| Carbohydrate sulfotransferase 11 levels | A | OR 0.24 | 7E-68 | PubMed |
| Venous thromboembolism | G | OR 1.55 | 2E-52 | PubMed |
| LAYN/VWC2 protein level ratio | — | OR 0.11 | 1E-51 | PubMed |
| Alanine aminotransferase levels | A | β 0.022 | 2E-49 | PubMed |
| Serum levels of protein CASC4 | G | OR 0.27 | 1E-36 | PubMed |
| Lithostathine-1-alpha levels | A | OR 0.18 | 2E-35 | PubMed |
| Serum levels of protein LRRC32 | G | OR 0.25 | 1E-34 | PubMed |
| Lithostathine-1-beta levels | A | OR 0.17 | 1E-33 | PubMed |
Sources
- dbSNP: rs687621 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies