Annotation Detail

Information
Associated Genes
TERT
Associated Variants
TERT p.Ala305= (p.A305=) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala305= (p.A305=) ( ENST00000310581.10, ENST00000334602.10 )
Associated Disease
Carcinoma, Small Cell
Source Database
DisGeNET
Description
The results revealed that the variant homozygote TERT rs2736098TT was associated with an increased risk of lung cancer (OR=2.017, 95%CI=1.518-2.681), especially lung adenocarcinoma (OR=2.117, 95%CI=1.557-3.043) and small cell carcinoma (OR=1.979, 95%CI: 1.174-3.334), compared with the TERT rs2736098CC genotype.
Pubmed
24761905
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2015
Drugs