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Multiple sclerosis

ERG · rs6072343

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

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 A allele carried 1.08 times the odds of Multiple sclerosis; p = 3 × 10−9.

Where it sits Chromosome 20, band 20q12 — between genes, 1.2 kb from LPIN3.

How common each version is

AG
Korean KRGDB
A 0.6% · G 99.4%
Korean Korea4K
A 0.4% · G 99.6%
Japanese ToMMo
A 1.1% · G 98.9%
Vietnamese
A 0.9% · G 99.1%
World gnomAD
A 12.2% · G 87.8%
World 1000 Genomes
A 7.0% · G 93.0%
World TOPMed
A 11.2% · G 88.8%

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/G One copy of the version the research linked to Multiple sclerosis. That is a smaller link than two copies.
G/G No copy of the version the research linked to Multiple sclerosis. This is the starting point the study compared everyone against.
Source
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility
International Multiple Sclerosis Genetics Consortium
Science (New York, N.Y.) · 2019 · PMID 31604244

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 (rs6072343). MyGeneLog™. https://www.mygenelog.com/variants/rs6072343

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