Sensitive

Multiple sclerosis

ZMIZ1 · rs1250551

Where this position leads

Condition: Multiple Sclerosis

rs1250551 Condition: Multiple Sclerosis Multiple Sclerosis Condition rs1250551 rs1250551 ZMIZ1

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−23, with 4 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 T allele carried 1.10 times the odds of Multiple sclerosis; p = 2 × 10−23.

Where it sits Chromosome 10, band 10q22.3 — in an intron of ZMIZ1.

How common each version is

GT
Korean KRGDB
G 51.3% · T 48.7%
Korean Korea4K
G 51.7% · T 48.3%
Japanese ToMMo
G 58.2% · T 41.8%
Vietnamese
G 73.6% · T 26.4%
World gnomAD
G 71.2% · T 28.8%
World 1000 Genomes
G 71.8% · T 28.2%
World TOPMed
G 73.2% · T 26.8%

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

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

Questions about rs1250551

What is rs1250551?

rs1250551 is a single position in the genome, in or near the ZMIZ1 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 rs1250551 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 rs1250551 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 rs1250551 come from?

GWAS Catalog, Science 2019, PMID:31604244. 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.

Multiple sclerosis (rs1250551). MyGeneLog™. https://www.mygenelog.com/variants/rs1250551

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