Genetic variant
rs117672662
rs117672662 is a single-letter difference in human DNA, on chromosome 14. 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 rs117672662 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Said to be an 'Amerindian-specific variant' in
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 rs117672662, 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
- rs117672662
- Position
- chr14:68958750
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| mean platelet volume (MPV, mean, inv-norm transformed) | T | OR 0.45 | 7E-134 | PubMed |
| mean platelet volume (MPV, maximum, inv-norm transformed) | T | OR 0.44 | 8E-131 | PubMed |
| mean platelet volume (MPV, mean, inv-norm transformed) | T | OR 0.41 | 5E-119 | PubMed |
| mean platelet volume (MPV, maximum, inv-norm transformed) | T | OR 0.41 | 1E-115 | PubMed |
| mean platelet volume (MPV, minimum, inv-norm transformed) | T | OR 0.41 | 3E-115 | PubMed |
| Mean platelet thrombocyte volume (UKB data field 30100) | C | OR 0.41 | 2E-101 | PubMed |
| mean platelet volume (MPV, minimum, inv-norm transformed) | T | OR 0.37 | 9E-99 | PubMed |
| Platelet count | T | OR 0.64 | 6E-94 | PubMed |
| platelet count (mean, inv-norm transformed) | T | OR 0.28 | 2E-81 | PubMed |
| platelet count (mean, inv-norm transformed) | T | OR 0.27 | 2E-81 | PubMed |
| platelet count (minimum, inv-norm transformed) | T | OR 0.26 | 3E-74 | PubMed |
| platelet count (minimum, inv-norm transformed) | T | OR 0.26 | 4E-74 | PubMed |
| platelet count (maximum, inv-norm transformed) | T | OR 0.24 | 9E-64 | PubMed |
| platelet count (maximum, inv-norm transformed) | T | OR 0.24 | 2E-61 | PubMed |
| Platelet count (UKB data field 30080) | C | OR 0.34 | 6E-60 | PubMed |
| Mean platelet volume | C | OR 0.41 | 3E-51 | PubMed |
| Platelet count | C | OR 0.39 | 2E-46 | PubMed |
| Platelet count | T | OR 0.31 | 8E-45 | PubMed |
| Platelet count | — | OR 18.87 | 4E-42 | PubMed |
| Platelet distribution width (UKB data field 30110) | C | OR 0.27 | 3E-39 | PubMed |
Sources
- dbSNP: rs117672662 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies