Genetic variant
rs10512472
rs10512472 is a single-letter difference in human DNA, on chromosome 17. 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 rs10512472 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 rs10512472, 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
- rs10512472
- Position
- chr17:35557785
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Mean platelet thrombocyte volume (UKB data field 30100) | C | β 0.057 | 1E-150 | PubMed |
| Mean platelet volume | T | — | 2E-127 | PubMed |
| Mean platelet volume | T | β 0.06 | 3E-126 | PubMed |
| mean platelet volume (MPV, mean, inv-norm transformed) | T | β 0.093 | 1E-116 | PubMed |
| Platelet count | C | β 0.089 | 2E-110 | PubMed |
| Mean platelet volume | C | β 0.09 | 2E-109 | PubMed |
| mean platelet volume (MPV, maximum, inv-norm transformed) | T | β 0.088 | 2E-106 | PubMed |
| ELOA/SRP14 protein level ratio | — | OR 0.19 | 2E-102 | PubMed |
| mean platelet volume (MPV, minimum, inv-norm transformed) | T | β 0.083 | 5E-96 | PubMed |
| APEX1/SRP14 protein level ratio | — | OR 0.17 | 9E-79 | PubMed |
| platelet count (mean, inv-norm transformed) | T | β 0.063 | 7E-67 | PubMed |
| PRKRA protein levels | C | OR 0.13 | 1E-62 | PubMed |
| mean platelet volume (MPV, mean, inv-norm transformed) | T | β 0.066 | 2E-58 | PubMed |
| platelet count (minimum, inv-norm transformed) | T | β 0.054 | 3E-55 | PubMed |
| mean platelet volume (MPV, minimum, inv-norm transformed) | T | β 0.06 | 7E-52 | PubMed |
| platelet count (maximum, inv-norm transformed) | T | β 0.053 | 2E-50 | PubMed |
| Plateletcrit | C | β 0.043 | 5E-47 | PubMed |
| CDKN1A/TBL1X protein level ratio | — | OR 0.12 | 1E-42 | PubMed |
| Y-box-binding protein 2 levels | T | OR 0.21 | 2E-37 | PubMed |
| CDKN1A/NCK2 protein level ratio | — | OR 0.11 | 4E-35 | PubMed |
Sources
- dbSNP: rs10512472 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies