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Thyroid stimulating hormone levels

MACF1 · rs596062

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 G allele shifted the measure 0.016 higher (95% confidence interval 0.012-0.02); p = 1 × 10⁻¹².

How common The G allele had a frequency of about 30% in the people studied.

Where it sits Chromosome 1, band 1p34.3 — in an intron of MACF1.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Thyroid stimulating hormone levels — 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 Thyroid stimulating hormone levels.

G/G 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.

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 rs596062

What is rs596062?

rs596062 is a single position in the genome, in or near the MACF1 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 rs596062 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 rs596062 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 rs596062 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 (rs596062). MyGeneLog™. https://www.mygenelog.com/variants/rs596062

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