Annotation Detail

Information
Associated Genes
TERT
Associated Variants
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
Associated Disease
brain glioma
Source Database
CIViC Evidence
Description
Meta-analysis of 10 studies (9,411 patients, 13,708 controls) showed that TERT polymorphisms (rs2736100) were associated with an increased glioma risk (RR=1.28, 95% CI 1.23-1.33).
Variant Origin
Common Germline
Variant Origin
Common Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/980
Gene URL
https://civic.genome.wustl.edu/links/genes/79
Variant URL
https://civic.genome.wustl.edu/links/variants/421
Rating
2
Evidence Type
Predisposing
Disease
Brain Glioma
Evidence Direction
Supports
Evidence Level
B
Clinical Significance
Positive
Pubmed
26765760
Drugs