Sensitive

Tumor necrosis factor receptor superfamily member 5 levels

CD40 · rs41282788

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−46, 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 21,758 European ancestry individuals; replicated in 9,173 individuals.

The effect Each copy of the C allele shifted the measure 0.538 higher; p = 5 × 10−47.

How common The C allele had a frequency of about 2% in the people studied.

Where it sits Chromosome 20, band 20q13.12 — a missense change in CD40.

What ClinVar records

Classification Benign for Hyper-IgM syndrome type 3; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2025-07-30. ClinVar record 993383 NM_001250.6(CD40):c.559+36G>C

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

C/C Two copies of the version the research linked to Tumor necrosis factor receptor superfamily member 5 levels. 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 Tumor necrosis factor receptor superfamily member 5 levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to Tumor necrosis factor receptor superfamily member 5 levels. This is the starting point the study compared everyone against.
Source

Questions about rs41282788

What is rs41282788?

rs41282788 is a single position in the genome, in or near the CD40 gene. Published research associates it with tumor necrosis factor receptor superfamily member 5 levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs41282788 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 rs41282788 come from?

GWAS Catalog, Nature metabolism 2020, PMID:33067605. 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.

Tumor necrosis factor receptor superfamily member 5 levels (rs41282788). MyGeneLog™. https://www.mygenelog.com/variants/rs41282788

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