Standard

Hematocrit

SYNPO · rs41364946

Where this position leads

Condition: Blood Cell Counts

rs41364946 Condition: Blood Cell Counts Blood Cell Counts Condition rs41364946 rs41364946 SYNPO

What the study found

Who was studied 737,823 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals.

The effect The reported allele is G; the catalogue records no effect size ; p = 6 × 10−10.

How common The G allele had a frequency of about 2% in the people studied.

Where it sits Chromosome 5, band 5q33.1 — a missense change in SYNPO.

What ClinVar records

Classification Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2026-06-01. ClinVar record 1554668 NM_007286.6(SYNPO):c.2182A>G (p.Met728Val)

What this is ClinVar's aggregate record for this position (as of its 2026-09-24 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 with typical/baseline likelihood of Hematocrit — no copies of the reported risk allele.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Hematocrit.
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Hematocrit compared to the general population.
Source

Questions about rs41364946

What is rs41364946?

rs41364946 is a single position in the genome, in or near the SYNPO gene. Published research associates it with hematocrit. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs41364946 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 rs41364946 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 rs41364946 come from?

GWAS Catalog, Cell 2020, PMID:32888493. 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.

Hematocrit (rs41364946). MyGeneLog™. https://www.mygenelog.com/variants/rs41364946

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