Gene Knowledge Graph
UTC
Sensitive

Restless legs syndrome

SLC40A1 · rs12693542

Where this position leads

Condition: Restless Legs Syndrome

rs12693542 Condition: Restless Legs Syndrome Restless Legs Syndrome Condition rs12693542 rs12693542 SLC40A1

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 A allele shifted the measure 0.0563 lower (95% confidence interval 0.043-0.069); p = 1 × 10−17.

How common The A allele had a frequency of about 74% in the people studied.

Where it sits Chromosome 2, band 2q32.2 — in an intron of SLC40A1.

What ClinVar records

Classification Benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-11-12. ClinVar record 1251429 NC_000002.12:g.189581122G>A

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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 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 rs12693542

What is rs12693542?

rs12693542 is a single position in the genome, in or near the SLC40A1 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 rs12693542 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 rs12693542 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 rs12693542 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 (rs12693542). MyGeneLog™. https://www.mygenelog.com/variants/rs12693542

← See all variants