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Red blood cell count

BET1L · rs11245997

Where this position leads

Conditions: Blood Cell Counts, Cataract

rs11245997 Condition: Blood Cell Counts Blood Cell Counts Condition Condition: Cataract Cataract Condition rs11245997 rs11245997 BET1L

What the study found

Who was studied 507,850 East Asian ancestry individuals, 420,829 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0245 lower (95% confidence interval 0.02-0.029); p = 4 × 10−27.

Where it sits Chromosome 11, band 11p15.5 — in the 3′ untranslated region of BET1L.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Red blood cell count compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Red blood cell count.
G/G Published research associates this genotype with typical/baseline likelihood of Red blood cell count — no copies of the reported risk allele.
Source
Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures
Jee YH, Wang Y, Jung KJ, Lee JY, Kimm H, Duan R, Price AL, Martin AR, Kraft P
Nature communications · 2025 · PMID 40436827 · open access

Questions about rs11245997

What is rs11245997?

rs11245997 is a single position in the genome, in or near the BET1L gene. Published research associates it with red blood cell count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs11245997 linked to?

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

Does having rs11245997 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 rs11245997 come from?

GWAS Catalog, Nature communications 2025, PMID:40436827. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Red blood cell count (rs11245997). MyGeneLog™. https://www.mygenelog.com/variants/rs11245997

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