Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 MUTATION
TP53 MUTATION
rs3829787
CHRNA5 c.106+7258T>C ( ENST00000299565.9, ENST00000559554.5 )
CHRNA3 c.268-64C>A ( ENST00000348639.7, ENST00000326828.6 )
rs3829787
CHRNA5 c.106+7258T>C ( ENST00000299565.9, ENST00000559554.5 )
CHRNA3 c.268-64C>A ( ENST00000326828.6, ENST00000348639.7 )
Associated Disease
Lung Neoplasms
Source Database
DisGeNET
Description
We found that four of the variants (rs3829787, rs3841324, rs588765 and rs3743073) were associated with differential levels of genetic alterations measured as the levels of hydrophobic DNA adducts in the adjacent histologically normal tissue of the lung cancer patients and as TP53 mutations in their lung tumors.
Pubmed
23011884
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.326818823782967
Year of publication
2013
Drugs