Standard

Sarcoidosis

HLA-DQB1 · rs28688207

Where this position leads

Condition: Sarcoidosis

rs28688207 Condition: Sarcoidosis Sarcoidosis Condition rs28688207 rs28688207 HLA-DQB1

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−15, 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 1,718 European ancestry cases, 484,955 European ancestry controls, 220 East Asian ancestry cases, 177,667 East Asian ancestry controls.

The effect Each copy of the C allele shifted the measure 0.744 higher (95% confidence interval 0.56-0.93); p = 1 × 10−15.

Where it sits Chromosome 6, band 6p21.32 — inside HLA-DQB1.

What each result means

C/C Two copies of the version the research linked to Sarcoidosis. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Sarcoidosis. That is a smaller link than two copies.
T/T No copy of the version the research linked to Sarcoidosis. This is the starting point the study compared everyone against.
Source

Questions about rs28688207

What is rs28688207?

rs28688207 is a single position in the genome, in or near the HLA-DQB1 gene. Published research associates it with sarcoidosis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs28688207 linked to?

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

Does having rs28688207 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 rs28688207 come from?

GWAS Catalog, Nature genetics 2021, PMID:34594039. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Sarcoidosis (rs28688207). MyGeneLog™. https://www.mygenelog.com/variants/rs28688207

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