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Thyroid stimulating hormone levels

KDF1 · rs3010109

Where this position leads

Condition: Thyroid Stimulating Hormone (TSH) Levels

What the study found

Who was studied 482,873 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.018 lower (95% confidence interval 0.012-0.024); p = 4 × 10⁻¹⁰.

How common The A allele had a frequency of about 17% in the people studied.

Where it sits Chromosome 1, band 1p36.11 — a missense change in KDF1.

What ClinVar records

Classification Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2026-01-31. ClinVar record 1560051 NM_152365.3(KDF1):c.319C>T (p.Arg107Trp)

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 (two copies of the reported risk allele) with a higher likelihood of Thyroid stimulating hormone levels compared to the general population.

A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Thyroid stimulating hormone levels.

G/G Published research associates this genotype with typical/baseline likelihood of Thyroid stimulating hormone levels — no copies of the reported risk allele.

Source

Genome-wide association study and polygenic risk prediction of hypothyroidism

Rand SA, Ahlberg G, Tragante V, Monfort LM, Zheng C, Feldt-Rasmussen U, Klose MC, Teder-Laving M, Metspalu A, Poulsen HE, Ellervik C, Nygaard B

and 18 more — show all

Erikstrup C, Bruun MT, A Jensen B, Ullum H, Brunak S, Schwinn M, Ostrowski SR, Pedersen OB, Sørensen E, Jonsdottir I, Gudbjartsson DF, Thorleifsson G, Holm H, Saevarsdottir S, Stefansson K, Salling Olesen M, Bundgaard H, Ghouse J

DBDS Genomic Consortium · Estonian Biobank Research Team · 23andMe Research Team

Nature genetics · 2025 · PMID 41238958 · open access

Questions about rs3010109

What is rs3010109?

rs3010109 is a single position in the genome, in or near the KDF1 gene. Published research associates it with thyroid stimulating hormone levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs3010109 linked to?

On MyGeneLog this position is linked to Thyroid Stimulating Hormone (TSH) Levels. The research behind each link, and its sources, are set out on that condition page.

Does having rs3010109 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 rs3010109 come from?

GWAS Catalog, Nature genetics 2025, PMID:41238958. 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.

Thyroid stimulating hormone levels (rs3010109). MyGeneLog™. https://www.mygenelog.com/variants/rs3010109

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