Standard

CD40 on monocytes

CD40 · rs745307

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10⁻⁹⁵, 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 3,629 Sardinian (founder/genetic isolate) ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.715 higher (95% confidence interval 0.65-0.78); p = 7 × 10⁻⁹⁶.

How common The A allele had a frequency of about 15% in the people studied.

Where it sits Chromosome 20, band 20q13.12 — in an intron of CD40.

What ClinVar records

Classification Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2024-01-24. ClinVar record 1245520 NM_001250.6(CD40):c.51+53G>A

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 2026-11-09 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.

How common each version is

AG

Korean KRGDB

A 4.9% · G 95.1%

Korean Korea4K

A 4.9% · G 95.1%

Korean Korea1K

A 4.4% · G 95.6%

Japanese ToMMo

A 3.6% · G 96.4%

World gnomAD

A 17.9% · G 82.1%

World 1000 Genomes

A 11.4% · G 88.6%

World TOPMed

A 16.3% · G 83.7%

By ancestry gnomAD

East Asian

A 3.4% · G 96.6%

European (non-Finnish)

A 25.8% · G 74.2%

African / African American

A 6.5% · G 93.5%

South Asian

A 18.4% · G 81.6%

Admixed American (Latino)

A 12.6% · G 87.4%

Middle Eastern

A 18.1% · G 81.8%

Finnish

A 25.9% · G 74.1%

Ashkenazi Jewish

A 18.6% · G 81.4%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A Two copies of the version the research linked to CD40 on monocytes. 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 CD40 on monocytes. That is a smaller link than two copies.

G/G No copy of the version the research linked to CD40 on monocytes. This is the starting point the study compared everyone against.

Source

Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

Orrù V, Steri M, Sidore C, Marongiu M, Serra V, Olla S, Sole G, Lai S, Dei M, Mulas A, Virdis F, Piras MG

and 16 more — show all

Lobina M, Marongiu M, Pitzalis M, Deidda F, Loizedda A, Onano S, Zoledziewska M, Sawcer S, Devoto M, Gorospe M, Abecasis GR, Floris M, Pala M, Schlessinger D, Fiorillo E, Cucca F

Nature genetics · 2020 · PMID 32929287

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

CD40 on monocytes (rs745307). MyGeneLog™. https://www.mygenelog.com/variants/rs745307

← See all variants