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Restless legs syndrome

CCDC148 · rs199997012

Where this position leads

Condition: Restless Legs Syndrome

rs199997012 Condition: Restless Legs Syndrome Restless Legs Syndrome Condition rs199997012 rs199997012 CCDC148

What the study found

Who was studied 38,314 European ancestry male cases, 701,594 European ancestry male controls.

The effect Each copy of the A allele shifted the measure 0.0943 higher (95% confidence interval 0.075-0.114); p = 1 × 10−21.

How common The A allele had a frequency of about 76% in the people studied.

Where it sits Chromosome 2, band 2q24.1 — in an intron of CCDC148.

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/T One copy of the version the research linked to Restless legs syndrome. That is a smaller link than two copies.
T/T 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 rs199997012

What is rs199997012?

rs199997012 is a single position in the genome, in or near the CCDC148 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 rs199997012 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 rs199997012 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 rs199997012 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 (rs199997012). MyGeneLog™. https://www.mygenelog.com/variants/rs199997012

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