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Sensitive

Multiple sclerosis

FRMD6 · rs11852059

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−9, 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 14,802 European and unknown ancestry cases, 26,703 European and unknown ancestry controls; replicated in 32,627 European and unknown ancestry cases, 41,672 European and unknown ancestry controls.

The effect Each copy of the C allele carried 1.10 times the odds of Multiple sclerosis; p = 1 × 10−9.

Where it sits Chromosome 14, band 14q22.1 — in an intron of GNG2.

How common each version is

AC
Korean Korea4K
A 99.9% · C 0.1%
Japanese ToMMo
A 100.0% · C 0.0%
World gnomAD
A 77.5% · C 22.5%
World 1000 Genomes
A 80.9% · C 19.1%
World TOPMed
A 77.2% · C 22.8%

By ancestry gnomAD

East Asian
A 99.8%
European (non-Finnish)
A 81.5% · C 18.5%
African / African American
A 64.2% · C 35.8%
South Asian
A 85.2% · C 14.8%
Admixed American (Latino)
A 83.2% · C 16.8%
Middle Eastern
A 71.6% · C 28.4%
Finnish
A 80.8% · C 19.2%
Ashkenazi Jewish
A 80.4% · C 19.6%

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 No copy of the version the research linked to Multiple sclerosis. This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to Multiple sclerosis. That is a smaller link than two copies.
C/C 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.
Source

Quoting this page

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Multiple sclerosis (rs11852059). MyGeneLog™. https://www.mygenelog.com/variants/rs11852059

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