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Hypothyroidism

SMARCA4 · rs117788028

Where this position leads

Condition: Hypothyroidism

rs117788028 Condition: Hypothyroidism Hypothyroidism Condition rs117788028 rs117788028 SMARCA4

What the study found

Who was studied 221,596 European ancestry cases, 1,564,466 European ancestry controls.

The effect Each copy of the A allele shifted the measure 0.108 higher (95% confidence interval 0.075-0.141); p = 2 × 10−10.

How common The A allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 19, band 19p13.2 — in an intron of SMARCA4.

What ClinVar records

Classification Benign/Likely benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2023-06-01. ClinVar record 1675720 NM_003072.5(SMARCA4):c.1593+343G>A

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 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 rs117788028

What is rs117788028?

rs117788028 is a single position in the genome, in or near the SMARCA4 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 rs117788028 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 rs117788028 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 rs117788028 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 (rs117788028). MyGeneLog™. https://www.mygenelog.com/variants/rs117788028

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