Standard

Mean corpuscular hemoglobin concentration

PIEZO1 · rs202099525

Where this position leads

Condition: Blood Cell Counts

rs202099525 Condition: Blood Cell Counts Blood Cell Counts Condition rs202099525 rs202099525 PIEZO1

What the study found

Who was studied 172,851 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.39 lower (95% confidence interval 0.27-0.51); p = 9 × 10−11.

How common The A allele had a frequency of about 0% in the people studied.

Where it sits Chromosome 16, band 16q24.3 — a missense change in PIEZO1.

What ClinVar records

Classification Conflicting classifications of pathogenicity for Inborn genetic diseases; criteria provided, conflicting classifications (1 of 4 stars, 6 submitters), last evaluated 2025-12-19. ClinVar record 1406603 NM_001142864.4(PIEZO1):c.5312C>T (p.Pro1771Leu)

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Mean corpuscular hemoglobin concentration compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Mean corpuscular hemoglobin concentration.
G/G Published research associates this genotype with typical/baseline likelihood of Mean corpuscular hemoglobin concentration — no copies of the reported risk allele.
Source

Questions about rs202099525

What is rs202099525?

rs202099525 is a single position in the genome, in or near the PIEZO1 gene. Published research associates it with mean corpuscular hemoglobin concentration. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs202099525 linked to?

On MyGeneLog this position is linked to Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.

Does having rs202099525 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs202099525 come from?

GWAS Catalog, Cell 2016, PMID:27863252. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Mean corpuscular hemoglobin concentration (rs202099525). MyGeneLog™. https://www.mygenelog.com/variants/rs202099525

← See all variants