Annotation Detail

Information
Associated Genes
TERF2
Associated Variants
TERF2 c.1341-42T>C ( ENST00000254942.8 )
TERT c.2654+269T>C ( ENST00000310581.10, ENST00000334602.10 )
POT1 c.1595-111A>G ( ENST00000357628.8, ENST00000393329.5, ENST00000653241.1, ENST00000654766.1, ENST00000655761.1, ENST00000664366.1, ENST00000668382.1 )
TERF2 c.1341-42T>C ( ENST00000254942.8 )
TERT c.2654+269T>C ( ENST00000310581.10, ENST00000334602.10 )
POT1 c.1595-111A>G ( ENST00000357628.8, ENST00000393329.5, ENST00000653241.1, ENST00000654766.1, ENST00000655761.1, ENST00000664366.1, ENST00000668382.1 )
Associated Disease
Carcinoma of lung
Source Database
DisGeNET
Description
POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associated with lung cancer (p(trend)< or =0.05).
Pubmed
19285750
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2009
Drugs