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Glioma (high-grade)

RTEL1 · rs4809324

Where this position leads

Condition: Glioma

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻⁹, 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 692 European ancestry cases, 3,992 European ancestry controls; replicated in 176 cases, 174 controls.

The effect Each copy of the C allele carried 1.60 times the odds of Glioma (high-grade) (95% confidence interval 1.37-1.87); p = 2 × 10⁻⁹.

How common The C allele had a frequency of about 10% in the people studied.

Where it sits Chromosome 20, band 20q13.33 — in an intron of RTEL1.

How common each version is

CT

Korean KRGDB

C 9.2% · T 90.8%

Korean Korea4K

C 9.9% · T 90.1%

Korean Korea1K

C 9.9% · T 90.1%

Japanese ToMMo

C 17.3% · T 82.7%

Vietnamese

C 18.2% · T 81.8%

World gnomAD

C 9.1% · T 90.9%

World 1000 Genomes

C 10.6% · T 89.4%

World TOPMed

C 10.2% · T 89.8%

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.

What each result means

C/C Two copies of the version the research linked to Glioma (high-grade). 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 Glioma (high-grade). That is a smaller link than two copies.

T/T No copy of the version the research linked to Glioma (high-grade). This is the starting point the study compared everyone against.

Source

Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility

Wrensch M, Jenkins RB, Chang JS, Yeh RF, Xiao Y, Decker PA, Ballman KV, Berger M, Buckner JC, Chang S, Giannini C, Halder C

and 16 more — show all

Kollmeyer TM, Kosel ML, LaChance DH, McCoy L, O'Neill BP, Patoka J, Pico AR, Prados M, Quesenberry C, Rice T, Rynearson AL, Smirnov I, Tihan T, Wiemels J, Yang P, Wiencke JK

Nature genetics · 2009 · PMID 19578366 · open access

Questions about rs4809324

What is rs4809324?

rs4809324 is a single position in the genome, in or near the RTEL1 gene. Published research associates it with glioma (high-grade). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4809324 linked to?

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

Does having rs4809324 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 rs4809324 come from?

GWAS Catalog, Nat Genet 2009, PMID:19578366. 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.

Glioma (high-grade) (rs4809324). MyGeneLog™. https://www.mygenelog.com/variants/rs4809324

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