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Benign nodular goiter

near SALL1 · rs71386547

Where this position leads

Condition: Benign Nodular Goiter

rs71386547 Condition: Benign Nodular Goiter Benign Nodular Goiter Condition rs71386547 rs71386547 near SALL1

What the study found

Who was studied 68,987 African ancestry, admixed American, East Asian ancestry, European ancestry, South Asian ancestry, Greater Middle Eastern cases, 2,391,458 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 0.062 higher (95% confidence interval 0.047-0.077); p = 8 × 10−17.

How common The A allele had a frequency of about 20% in the people studied.

Where it sits Chromosome 16, band 16q12.1 — between genes, 2.1 kb from SALL1.

What each result means

A/A Two copies of the version the research linked to Benign nodular goiter. 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 Benign nodular goiter. That is a smaller link than two copies.
G/G No copy of the version the research linked to Benign nodular goiter. This is the starting point the study compared everyone against.
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 rs71386547

What is rs71386547?

rs71386547 is a single position in the genome, in or near the near SALL1 gene. Published research associates it with benign nodular goiter. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs71386547 linked to?

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

Does having rs71386547 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 rs71386547 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.

Benign nodular goiter (rs71386547). MyGeneLog™. https://www.mygenelog.com/variants/rs71386547

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