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Restless legs syndrome

ATXN1 · rs112130910

Where this position leads

Condition: Restless Legs Syndrome

rs112130910 Condition: Restless Legs Syndrome Restless Legs Syndrome Condition rs112130910 rs112130910 ATXN1

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 78,333 European ancestry female cases, 844,872 European ancestry female controls.

The effect Each copy of the T allele shifted the measure 0.0858 higher (95% confidence interval 0.056-0.116); p = 2 × 10−8.

How common The T allele had a frequency of about 3% in the people studied.

Where it sits Chromosome 6, band 6p22.3 — in an intron of ATXN1.

What each result means

C/C No copy of the version the research linked to Restless legs syndrome. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Restless legs syndrome. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Restless legs syndrome. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction
Schormair B, Zhao C, Bell S, Didriksen M, Nawaz MS, Schandra N, Stefani A, Högl B, Dauvilliers Y, Bachmann CG, Kemlink D, Sonka K
and 55 more — show all
Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek ZK, Ibrahim A, Bergmann M, Kittke V, Harrer P, Dowsett J, Chenini S, Ostrowski SR, Sørensen E, Erikstrup C, Pedersen OB, Topholm Bruun M, Nielsen KR, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Burchell B, Furlotte NA, Nandakumar P, Earley CJ, Ondo WG, Xiong L, Desautels A, Perola M, Vodicka P, Dina C, Stoll M, Franke A, Lieb W, Stewart AFR, Shah SH, Gieger C, Peters A, Rye DB, Rouleau GA, Berger K, Stefansson H, Ullum H, Stefansson K, Hinds DA, Di Angelantonio E, Oexle K, Winkelmann J
23andMe Research Team · D.E.S.I.R. study group
Nature genetics · 2024 · PMID 38839884 · open access

Questions about rs112130910

What is rs112130910?

rs112130910 is a single position in the genome, in or near the ATXN1 gene. Published research associates it with restless legs syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs112130910 linked to?

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

Does having rs112130910 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 rs112130910 come from?

GWAS Catalog, Nature genetics 2024, PMID:38839884. 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.

Restless legs syndrome (rs112130910). MyGeneLog™. https://www.mygenelog.com/variants/rs112130910

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