Annotation Detail

Information
Associated Genes
POT1
Associated Variants
POT1 c.1595-111A>G ( ENST00000357628.8, ENST00000393329.5, ENST00000653241.1, ENST00000654766.1, ENST00000655761.1, ENST00000664366.1, ENST00000668382.1 )
POT1 c.1595-111A>G ( ENST00000357628.8, ENST00000393329.5, ENST00000653241.1, ENST00000654766.1, ENST00000655761.1, ENST00000664366.1, ENST00000668382.1 )
Associated Disease
Malignant neoplasm of lung
Source Database
DisGeNET
Description
When stratified by genotype, there was a suggestion of a dose-response relationship between tertiles of telomere length and risk of lung cancer among the POT1 rs10244817 common variant carriers (OR (95% CI)=1.33 (0.47-3.75), 3.30 (1.14-9.56), respectively) but not among variant genotype carriers (p(interaction)=0.05).
Pubmed
19285750
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00527694770136467
Year of publication
2009
Drugs