Standard

Hypothyroidism

TSHR-AS1 · rs121908866

Where this position leads

What the study found

Who was studied 98,805 European ancestry cases, 948,186 European ancestry controls, 14,588 cases, 117,082 controls; replicated in 34,835 European ancestry cases, 492,149 European ancestry controls.

The effect Each copy of the A allele shifted the measure 2.04 higher (95% confidence interval 1.68-2.4); p = 2 × 10⁻²⁸.

Where it sits Chromosome 14, band 14q31.1 — a stop-gain change in TSHR-AS1.

What ClinVar records

Classification Pathogenic for Hypothyroidism due to TSH receptor mutations, Inborn genetic diseases, TSHR-related disorder, Familial hyperthyroidism due to mutations in TSH receptor, Familial gestational hyperthyroidism and 1 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 14 submitters), last evaluated 2026-07-02. ClinVar record 6439 NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)

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 Two copies of the version the research linked to Hypothyroidism. That is the strongest link of the three results. A link in a study is not a diagnosis.

A/G One copy of the version the research linked to Hypothyroidism. That is a smaller link than two copies.

G/G No copy of the version the research linked to Hypothyroidism. This is the starting point the study compared everyone against.

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 rs121908866

What is rs121908866?

rs121908866 is a single position in the genome, in or near the TSHR-AS1 gene. Published research associates it with hypothyroidism. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs121908866 linked to?

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

Does having rs121908866 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 rs121908866 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.

Hypothyroidism (rs121908866). MyGeneLog™. https://www.mygenelog.com/variants/rs121908866

← See all variants