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Hypothyroidism

SPDL1 · rs116483731

Where this position leads

Condition: Hypothyroidism

rs116483731 Condition: Hypothyroidism Hypothyroidism Condition rs116483731 rs116483731 SPDL1

What the study found

Who was studied 257,365 African ancestry, admixed American, East Asian ancestry, European ancestry, South Asian ancestry, Greater Middle Eastern cases, 2,186,763 African ancestry, admixed American, East Asian ancestry, European ancestry, South Asian ancestry, Greater Middle Eastern controls.

The effect Each copy of the A allele shifted the measure 0.0999 higher (95% confidence interval 0.069-0.131); p = 4 × 10−10.

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

Where it sits Chromosome 5, band 5q35.1 — a missense change in SPDL1.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Hypothyroidism compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Hypothyroidism.
G/G Published research associates this genotype with typical/baseline likelihood of Hypothyroidism — no copies of the reported risk allele.
Source
Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases
White SL, Brasher MS, Pattee J, Zhou W, Chapman S, Jee YH, Bell CC, Jamil TL, Barrio M, Arehart CH, Evans LM, Hirbo J
and 73 more — show all
Cox NJ, Straub P, Namba S, Bertucci-Richter E, Guare L, Edris A, Morris S, Mulford AJ, Zhang H, Fennessy B, Tobin MD, Chen J, Williams AT, John C, van Heel DA, Mathur R, Finer S, Moksnes MR, Brumpton BM, Åsvold BO, Peculis R, Rovite V, Konrade I, Wang Y, Crooks K, Chavan S, Fisher MJ, Rafaels N, Lin M, Shortt JA, Sanders AR, Whiteman DC, MacGregor S, Medland SE, Thorsteinsdóttir U, Stefánsson K, Karaderi T, Egan KM, Bocklage T, McCrary HC, Riedlinger G, Salhia B, Shriver C, Phan MD, Farlow JL, Edge S, Kaur V, Churchman ML, Rounbehler RJ, Brock PL, Ringel MD, Pividori M, Schweppe R, Raeburn CD, Walters RG, Chen Z, Li L, Matsuda K, Okada Y, Zöllner S, Verma A, Preuss MH, Kenny E, Hendricks AE, Fishbein L, Kraft P, Daly MJ, Neale BM, Martin AR, Cole JB, Haugen BR, Gignoux CR, Pozdeyev N
Penn Medicine BioBank · Virtual Thyroid Biopsy Consortium · Colorado Center for Personalized Medicine · Genes & Health Research Team · BioBank Japan Project · Global Biobank Meta-analysis Initiative
Nature genetics · 2026 · PMID 41644669 · open access

Questions about rs116483731

What is rs116483731?

rs116483731 is a single position in the genome, in or near the SPDL1 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 rs116483731 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 rs116483731 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 rs116483731 come from?

GWAS Catalog, Nature genetics 2026, PMID:41644669. 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 (rs116483731). MyGeneLog™. https://www.mygenelog.com/variants/rs116483731

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