Standard

Edema (PheCode 782.3)

near HLA-DQA1 · rs145380601

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, 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 18,750 African American or Afro-Caribbean cases, 89,354 African American or Afro-Caribbean controls, 5,910 Hispanic or Latin American cases, 48,894 Hispanic or Latin American controls, 359 East Asian ancestry cases, 6,129 East Asian ancestry controls, 65,194 European ancestry cases, 340,272 European ancestry controls.

The effect Each copy of the C allele shifted the measure 0.106 lower (95% confidence interval 0.079-0.133); p = 1 × 10−11.

How common The C allele had a frequency of about 85% in the people studied.

Where it sits Chromosome 6, band 6p21.32 — between genes, 4.1 kb from HLA-DQA1.

What each result means

C/C Two copies of the version the research linked to Edema (PheCode 782.3). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/G One copy of the version the research linked to Edema (PheCode 782.3). That is a smaller link than two copies.
G/G No copy of the version the research linked to Edema (PheCode 782.3). This is the starting point the study compared everyone against.
Source

Questions about rs145380601

What is rs145380601?

rs145380601 is a single position in the genome, in or near the near HLA-DQA1 gene. Published research associates it with edema (phecode 782.3). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs145380601 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 rs145380601 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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

Edema (PheCode 782.3) (rs145380601). MyGeneLog™. https://www.mygenelog.com/variants/rs145380601

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