Annotation Detail

Information
Associated Genes
CHRNA3
Associated Variants
CHRNA3 c.378-4117G>A ( ENST00000326828.6, ENST00000348639.7 )
CHRNA3 c.377+1334T>C ( ENST00000326828.6, ENST00000348639.7 )
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
rs4975616
BAG6 SNV ( ENST00000375918.6, ENST00000375920.8 )
CHRNA3 c.378-4117G>A ( ENST00000326828.6, ENST00000348639.7 )
CHRNA3 c.377+1334T>C ( ENST00000326828.6, ENST00000348639.7 )
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
rs4975616
BAG6 SNV ( ENST00000375918.6, ENST00000375920.8 )
Associated Disease
Smoker's lung
Source Database
DisGeNET
Description
To examine if variation at any of these loci influences the risk of lung cancer in never-smokers, we compared 5p15.33-TERT (rs2736100), 5p15.33-CLPTM1L (rs4975616), 6p21.33-BAT3 (rs3117582), 15q25.1-CHRNA3 (rs8042374) and 15q25.1-CHRNA3 (rs12914385) genotypes in a series of 239 never-smoker lung cancer cases and 553 never-smoker controls.
Pubmed
19955392
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2010
Drugs