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Sensitive

Multiple sclerosis

TSFM · rs201202118

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%

By ancestry gnomAD

East Asian
A 100.0%
European (non-Finnish)
A 99.9%
African / African American
A 99.9%
South Asian
A 99.9%
Admixed American (Latino)
A 99.9%
Finnish
A 99.0% · T 1.0%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

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

Quoting this page

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

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