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Glioma

RTEL1 · rs2297440

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

2 / 4

Its strongest genetic-study result is p = 10⁻⁴⁵, with 10 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 4,831 European ancestry male cases, 3,206 European ancestry female cases, 5,216 European ancestry male controls, 5,470 European ancestry female controls.

The effect Each copy of the C allele carried 1.37 times the odds of Glioma (95% confidence interval 1.26-1.49); p = 1 × 10⁻¹³.

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

What ClinVar records

Classification Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-11-12. ClinVar record 1224071 NM_001283009.2(RTEL1):c.1191+227T>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 2026-11-01 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

CT

Korean KRGDB

C 24.9% · T 75.1%

Korean Korea4K

C 25.3% · T 74.7%

Korean Korea1K

C 24.9% · T 75.1%

Japanese ToMMo

C 31.6% · T 68.4%

Vietnamese

C 33.5% · T 66.5%

World gnomAD

C 80.4% · T 19.6%

World 1000 Genomes

C 71.8% · T 28.2%

World TOPMed

C 80.4% · T 19.6%

By ancestry gnomAD

East Asian

C 29.0% · T 71.0%

European (non-Finnish)

C 77.7% · T 22.3%

African / African American

C 93.8% · T 6.2%

South Asian

C 72.9% · T 27.1%

Admixed American (Latino)

C 77.1% · T 22.9%

Middle Eastern

C 80.6% · T 19.4%

Finnish

C 80.0% · T 20.1%

Ashkenazi Jewish

C 75.1% · T 24.9%

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

C/C Two copies of the version the research linked to Glioma. 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. That is a smaller link than two copies.

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

Source

Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21

Ostrom QT, Kinnersley B, Wrensch MR, Eckel-Passow JE, Armstrong G, Rice T, Chen Y, Wiencke JK, McCoy LS, Hansen HM, Amos CI, Bernstein JL

and 24 more — show all

GliomaScan consortium

Scientific reports · 2018 · PMID 29743610 · open access

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

Glioma (rs2297440). MyGeneLog™. https://www.mygenelog.com/variants/rs2297440

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