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Restless legs syndrome

near COPS5P1 · rs1324118

Where this position leads

Condition: Restless Legs Syndrome

rs1324118 Condition: Restless Legs Syndrome Restless Legs Syndrome Condition rs1324118 rs1324118 near COPS5P1

What the study found

Who was studied 116,647 European ancestry cases, 1,546,466 European ancestry controls; replicated in 29,028 cases, 398,815 controls.

The effect Each copy of the A allele shifted the measure 0.0322 lower (95% confidence interval 0.022-0.043); p = 1 × 10−9.

How common The A allele had a frequency of about 78% in the people studied.

Where it sits Chromosome 6, band 6q16.1 — between genes, 23.3 kb from COPS5P1.

What each result means

A/A 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.
A/G One copy of the version the research linked to Restless legs syndrome. That is a smaller link than two copies.
G/G No copy of the version the research linked to Restless legs syndrome. This is the starting point the study compared everyone against.
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 rs1324118

What is rs1324118?

rs1324118 is a single position in the genome, in or near the near COPS5P1 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 rs1324118 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 rs1324118 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 rs1324118 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 (rs1324118). MyGeneLog™. https://www.mygenelog.com/variants/rs1324118

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