Sensitive

Amyotrophic lateral sclerosis

C9orf72 · rs2453555

Where this position leads

Condition: Amyotrophic Lateral Sclerosis

What the study found

Who was studied 27,205 European ancestry cases, 110,881 European ancestry controls.

The effect Each copy of the A allele shifted the measure 0.174 higher (95% confidence interval 0.15-0.2); p = 1 × 10⁻⁴³.

How common The A allele had a frequency of about 25% in the people studied.

Where it sits Chromosome 9, band 9p21.2 — in an intron of C9orf72.

What each result means

A/A Two copies of the version the research linked to Amyotrophic lateral sclerosis. 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 Amyotrophic lateral sclerosis. That is a smaller link than two copies.

G/G No copy of the version the research linked to Amyotrophic lateral sclerosis. This is the starting point the study compared everyone against.

Source

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E

and 180 more — show all

Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Traynor BJ, Singleton AB, Mitne Neto M, Cauchi RJ, Ophoff RA, Wiedau-Pazos M, Lomen-Hoerth C, van Deerlin VM, Grosskreutz J, Roediger A, Gaur N, Jörk A, Barthel T, Theele E, Ilse B, Stubendorff B, Witte OW, Steinbach R, Hübner CA, Graff C, Brylev L, Fominykh V, Demeshonok V, Ataulina A, Rogelj B, Koritnik B, Zidar J, Ravnik-Glavač M, Glavač D, Stević Z, Drory V, Povedano M, Blair IP, Kiernan MC, Benyamin B, Henderson RD, Furlong S, Mathers S, McCombe PA, Needham M, Ngo ST, Nicholson GA, Pamphlett R, Rowe DB, Steyn FJ, Williams KL, Mather KA, Sachdev PS, Henders AK, Wallace L, de Carvalho M, Pinto S, Petri S, Weber M, Rouleau GA, Silani V, Curtis CJ, Breen G, Glass JD, Brown RH Jr, Landers JE, Shaw CE, Andersen PM, Groen EJN, van Es MA, Pasterkamp RJ, Fan D, Garton FC, McRae AF, Davey Smith G, Gaunt TR, Eberle MA, Mill J, McLaughlin RL, Hardiman O, Kenna KP, Wray NR, Tsai E, Runz H, Franke L, Al-Chalabi A, Van Damme P, van den Berg LH, Veldink JH

SLALOM Consortium · PARALS Consortium · SLAGEN Consortium · SLAP Consortium

Nature genetics · 2021 · PMID 34873335 · open access

Questions about rs2453555

What is rs2453555?

rs2453555 is a single position in the genome, in or near the C9orf72 gene. Published research associates it with amyotrophic lateral sclerosis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2453555 linked to?

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

Does having rs2453555 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 rs2453555 come from?

GWAS Catalog, Nature genetics 2021, PMID:34873335. 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.

Amyotrophic lateral sclerosis (rs2453555). MyGeneLog™. https://www.mygenelog.com/variants/rs2453555

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