Sensitive

Systemic lupus erythematosus

near GABBR1 · rs111508444

Where this position leads

Condition: Systemic Lupus Erythematosus

rs111508444 Condition: Systemic Lupus Erythematosus Systemic Lupus Erythematosus Condition rs111508444 rs111508444 near GABBR1

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−19, with 3 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 13,377 East Asian ancestry cases, 194,993 East Asian ancestry controls.

The effect Each copy of the A allele carried 1.52 times the odds of Systemic lupus erythematosus (95% confidence interval 1.43-1.61); p = 2 × 10−19.

How common The A allele had a frequency of about 94% in the people studied.

Where it sits Chromosome 6, band 6p22.1 — in a non-coding transcript of SUMO2P1.

What each result means

A/A Two copies of the version the research linked to Systemic lupus erythematosus. 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 Systemic lupus erythematosus. That is a smaller link than two copies.
G/G No copy of the version the research linked to Systemic lupus erythematosus. This is the starting point the study compared everyone against.
Source

Questions about rs111508444

What is rs111508444?

rs111508444 is a single position in the genome, in or near the near GABBR1 gene. Published research associates it with systemic lupus erythematosus. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs111508444 linked to?

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

Does having rs111508444 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 rs111508444 come from?

GWAS Catalog, Ann Rheum Dis 2020, PMID:33272962. 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.

Systemic lupus erythematosus (rs111508444). MyGeneLog™. https://www.mygenelog.com/variants/rs111508444

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