Genetic variant
rs5030062
rs5030062 is a single-letter difference in human DNA, on chromosome 3. 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 rs5030062 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 rs5030062, 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
- rs5030062
- Position
- chr3:186736391
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Kininogen, HMW, Two Chain levels | A | OR 0.48 | 8E-293 | PubMed |
| BCL2L11/RAB6A protein level ratio | — | OR 0.23 | 7E-236 | PubMed |
| RAB6A protein levels | C | OR 0.18 | 2E-223 | PubMed |
| BCL2L11 protein levels | C | OR 0.14 | 2E-137 | PubMed |
| BCL2L11/ITGA6 protein level ratio | — | OR 0.17 | 8E-132 | PubMed |
| KLKB1 protein levels | — | OR 0.57 | 6E-69 | PubMed |
| NPY protein levels | C | β 0.085 | 3E-58 | PubMed |
| Serum levels of protein CAPN1;CAPNS1 | C | OR 0.3 | 5E-58 | PubMed |
| F11 protein levels | — | OR 0.52 | 6E-58 | PubMed |
| CD84/ITGA6 protein level ratio | — | OR 0.1 | 2E-47 | PubMed |
| Coagulation Factor XI levels | C | OR 0.56 | 3E-40 | PubMed |
| Serum levels of protein KNG1 | C | OR 0.22 | 1E-38 | PubMed |
| BMP6 protein levels | C | β 0.071 | 1E-35 | PubMed |
| Histidine levels | A | β 0.051 | 1E-35 | PubMed |
| Plasma kallikrein levels | C | OR 0.52 | 2E-35 | PubMed |
| Phenylalanine levels | A | β 0.05 | 5E-35 | PubMed |
| ITGA6 protein levels | C | β 0.069 | 5E-33 | PubMed |
| CPVL protein levels | C | β 0.035 | 6E-31 | PubMed |
| APOL1 protein levels | C | β 0.057 | 6E-28 | PubMed |
| ADAMTS15 protein levels | C | β 0.054 | 2E-22 | PubMed |
Sources
- dbSNP: rs5030062 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies