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Stuttering

MITF · rs17638538

Where this position leads

What the study found

Who was studied 40,137 European ancestry female cases, 529,934 European ancestry female controls.

The effect Each copy of the T allele shifted the measure 0.0498 higher (95% confidence interval 0.032-0.068); p = 5 × 10⁻⁸.

How common The T allele had a frequency of about 21% in the people studied.

Where it sits Chromosome 3, band 3p13 — in an intron of MITF.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Stuttering — no copies of the reported risk allele.

A/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Stuttering.

T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Stuttering compared to the general population.

Source

Large-scale genome-wide analyses of stuttering

Polikowsky HG, Scartozzi AC, Shaw DM, Pruett DG, Chen HH, Petty LE, Petty AS, Lowther EJ, Cho SH, Yu Y, Mozaffari S, Avery CL

and 9 more — show all

Harris KM, Gordon RL, Beilby JM, Viljoen KZ, Jones RM, Huff CD, Highland HM, Kraft SJ, Below JE

23andMe Research Team

Nature genetics · 2025 · PMID 40721530 · open access

Questions about rs17638538

What is rs17638538?

rs17638538 is a single position in the genome, in or near the MITF gene. Published research associates it with stuttering. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs17638538 linked to?

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

Does having rs17638538 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 rs17638538 come from?

GWAS Catalog, Nature genetics 2025, PMID:40721530. 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.

Stuttering (rs17638538). MyGeneLog™. https://www.mygenelog.com/variants/rs17638538

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