Genetic variant
rs612169
rs612169 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 rs612169 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 rs612169, 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
- rs612169
- Position
- chr9:133268030
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| LGALS4/TIE1 protein level ratio | — | OR 0.62 | 1E-1781 | PubMed |
| BCAM/LGALS4 protein level ratio | — | OR 0.61 | 4E-1681 | PubMed |
| GP2/LGALS8 protein level ratio | — | OR 0.61 | 3E-1616 | PubMed |
| LGALS4/PCDH17 protein level ratio | — | OR 0.58 | 3E-1529 | PubMed |
| GUCA2A/LGALS4 protein level ratio | — | OR 0.57 | 4E-1425 | PubMed |
| CDH5/LGALS4 protein level ratio | — | OR 0.54 | 2E-1342 | PubMed |
| NOTCH1/TIE1 protein level ratio | — | OR 0.4 | 2E-688 | PubMed |
| KDR/VWF protein level ratio | — | OR 0.39 | 4E-649 | PubMed |
| DKK1/LGALS8 protein level ratio | — | OR 0.33 | 1E-469 | PubMed |
| CDH5/PTPRM protein level ratio | — | OR 0.3 | 6E-377 | PubMed |
| PEAR1/PECAM1 protein level ratio | — | OR 0.28 | 1E-329 | PubMed |
| CDH5/ENG protein level ratio | — | OR 0.27 | 4E-313 | PubMed |
| PECAM1/SOD2 protein level ratio | — | OR 0.27 | 2E-304 | PubMed |
| PCDH17/SEMA7A protein level ratio | — | OR 0.26 | 1E-288 | PubMed |
| CX3CL1/DSG2 protein level ratio | — | OR 0.23 | 1E-224 | PubMed |
| FCGR2B/NOS3 protein level ratio | — | OR 0.2 | 1E-156 | PubMed |
| CD46/THBD protein level ratio | — | OR 0.16 | 8E-109 | PubMed |
| HYOU1/THBD protein level ratio | — | OR 0.15 | 7E-106 | PubMed |
| CDH5/PEAR1 protein level ratio | — | OR 0.14 | 8E-87 | PubMed |
| CELA3A/CPA1 protein level ratio | — | OR 0.14 | 3E-84 | PubMed |
Sources
- dbSNP: rs612169 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies