Genetic variant
rs61745086 a variant in the PIEZO1 gene
rs61745086 is a single-letter difference in the PIEZO1 gene, on chromosome 16. ClinVar, the public archive of variant interpretations, lists it as conflicting interpretations: laboratories that have assessed it do not agree on whether it matters. 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 rs61745086 is the catalogue number of one of them, in the PIEZO1 gene. Which letters you carry there — one copy from each parent — is your genotype.
PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)): The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]
Gene description from NCBI Gene
Why might it matter?
ClinVar records this variant as conflicting interpretations, meaning laboratories that have assessed it do not agree on whether it matters. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.
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 rs61745086, 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
- rs61745086
- Gene
- PIEZO1
- Position
- chr16:88715642
- ClinVar classification
- Conflicting classifications of pathogenicity
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Glycated haemoglobin HbA1c levels (UKB data field 30750) | A | OR 0.2 | 8E-101 | PubMed |
| Hemoglobin | A | OR 0.13 | 6E-29 | PubMed |
| Reticulocyte count | — | OR 0.11 | 3E-26 | PubMed |
| High light scatter reticulocyte count | — | OR 0.11 | 9E-25 | PubMed |
| High light scatter reticulocyte count | A | OR 0.12 | 2E-24 | PubMed |
| Hemoglobin levels | — | β 0.099 | 2E-22 | PubMed |
| Reticulocyte count | A | OR 0.11 | 2E-21 | PubMed |
| Reticulocyte count (UKB data field 30250) | A | β 0.093 | 4E-21 | PubMed |
| High light scatter reticulocyte count (UKB data field 30300) | A | β 0.091 | 2E-20 | PubMed |
| High light scatter reticulocyte percentage of red cells | A | OR 0.11 | 8E-20 | PubMed |
| Mean corpuscular hemoglobin concentration | A | β 0.091 | 9E-19 | PubMed |
| Reticulocyte fraction of red cells | A | β 0.1 | 3E-17 | PubMed |
| High light scatter reticulocyte percentage (UKB data field 30290) | A | β 0.083 | 3E-17 | PubMed |
| Reticulocyte percentage (UKB data field 30240) | A | β 0.084 | 5E-17 | PubMed |
| Height | — | β 0.067 | 6E-16 | PubMed |
| Red blood cell count | A | β 0.093 | 8E-16 | PubMed |
| Hematocrit | A | β 0.09 | 7E-15 | PubMed |
| Red blood cell count | — | β 0.069 | 4E-13 | PubMed |
| Standing height (UKB data field 50) | A | β 0.037 | 3E-12 | PubMed |
| Bilirubin levels | — | β 0.063 | 6E-12 | PubMed |
Sources
- dbSNP: rs61745086 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: PIEZO1
- Ensembl: PIEZO1
- GWAS Catalog — association studies