Gene Knowledge Graph
UTC
Sensitive

Multiple sclerosis

TSFM · rs201202118

Where this position leads

Condition: Multiple Sclerosis

rs201202118 Condition: Multiple Sclerosis Multiple Sclerosis Condition rs201202118 rs201202118 TSFM

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−21, 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 14,498 European ancestry cases, 24,091 European ancestry controls; replicated in 14,802 European ancestry cases, 26,703 European ancestry controls.

The effect Each copy of the A allele carried 1.13 times the odds of Multiple sclerosis (95% confidence interval -); p = 9 × 10−22.

How common The A allele had a frequency of about 67% in the people studied.

Where it sits Chromosome 12, band 12q14.1 — in an intron of TSFM.

How common each version is

AT
Korean KRGDB
A 93.1% · T 6.9%
Japanese ToMMo
A 99.9% · T 0.1%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

A/A Two copies of the version the research linked to Multiple sclerosis. 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 Multiple sclerosis. That is a smaller link than two copies.
T/T No copy of the version the research linked to Multiple sclerosis. This is the starting point the study compared everyone against.
Source
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J
and 181 more — show all
Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M, Oksenberg JR, Hintzen R, Barcellos LF, Agliardi C, Alfredsson L, Alizadeh M, Anderson C, Andrews R, Søndergaard HB, Baker A, Band G, Baranzini SE, Barizzone N, Barrett J, Bellenguez C, Bergamaschi L, Bernardinelli L, Berthele A, Biberacher V, Binder TM, Blackburn H, Bomfim IL, Brambilla P, Broadley S, Brochet B, Brundin L, Buck D, Butzkueven H, Caillier SJ, Camu W, Carpentier W, Cavalla P, Celius EG, Coman I, Comi G, Corrado L, Cosemans L, Cournu-Rebeix I, Cree BA, Cusi D, Damotte V, Defer G, Delgado SR, Deloukas P, di Sapio A, Dilthey AT, Donnelly P, Dubois B, Duddy M, Edkins S, Elovaara I, Esposito F, Evangelou N, Fiddes B, Field J, Franke A, Freeman C, Frohlich IY, Galimberti D, Gieger C, Gourraud PA, Graetz C, Graham A, Grummel V, Guaschino C, Hadjixenofontos A, Hakonarson H, Halfpenny C, Hall G, Hall P, Hamsten A, Harley J, Harrower T, Hawkins C, Hellenthal G, Hillier C, Hobart J, Hoshi M, Hunt SE, Jagodic M, Jelčić I, Jochim A, Kendall B, Kermode A, Kilpatrick T, Koivisto K, Konidari I, Korn T, Kronsbein H, Langford C, Larsson M, Lathrop M, Lebrun-Frenay C, Lechner-Scott J, Lee MH, Leone MA, Leppä V, Liberatore G, Lie BA, Lill CM, Lindén M, Link J, Luessi F, Lycke J, Macciardi F, Männistö S, Manrique CP, Martin R, Martinelli V, Mason D, Mazibrada G, McCabe C, Mero IL, Mescheriakova J, Moutsianas L, Myhr KM, Nagels G, Nicholas R, Nilsson P, Piehl F, Pirinen M, Price SE, Quach H, Reunanen M, Robberecht W, Robertson NP, Rodegher M, Rog D, Salvetti M, Schnetz-Boutaud NC, Sellebjerg F, Selter RC, Schaefer C, Shaunak S, Shen L, Shields S, Siffrin V, Slee M, Sorensen PS, Sorosina M, Sospedra M, Spurkland A, Strange A, Sundqvist E, Thijs V, Thorpe J, Ticca A, Tienari P, van Duijn C, Visser EM, Vucic S, Westerlind H, Wiley JS, Wilkins A, Wilson JF, Winkelmann J, Zajicek J, Zindler E, Haines JL, Pericak-Vance MA, Ivinson AJ, Stewart G, Hafler D, Hauser SL, Compston A, McVean G, De Jager P, Sawcer SJ, McCauley JL
International Multiple Sclerosis Genetics Consortium (IMSGC) · Wellcome Trust Case Control Consortium 2 (WTCCC2) · International IBD Genetics Consortium (IIBDGC)
Nature genetics · 2013 · PMID 24076602 · open access

Questions about rs201202118

What is rs201202118?

rs201202118 is a single position in the genome, in or near the TSFM gene. Published research associates it with multiple 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 rs201202118 linked to?

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

Does having rs201202118 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 rs201202118 come from?

GWAS Catalog, Nat Genet 2013, PMID:24076602. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Multiple sclerosis (rs201202118). MyGeneLog™. https://www.mygenelog.com/variants/rs201202118

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