Annotation Detail

Information
Associated Genes
NBN
Associated Variants
NBN p.Glu185Gln (p.E185Q) ( ENST00000265433.8, ENST00000409330.5, ENST00000517337.2, ENST00000523444.2, ENST00000697292.1, ENST00000697293.1, ENST00000697298.1, ENST00000697299.1, ENST00000697304.1, ENST00000697307.1, ENST00000697308.1, ENST00000697309.1, ENST00000697310.1 )
NBN p.Glu185Gln (p.E185Q) ( ENST00000265433.8, ENST00000409330.5, ENST00000517337.2, ENST00000523444.2, ENST00000697292.1, ENST00000697293.1, ENST00000697298.1, ENST00000697299.1, ENST00000697304.1, ENST00000697307.1, ENST00000697308.1, ENST00000697309.1, ENST00000697310.1 )
Associated Disease
Malignant neoplasm of lung
Source Database
DisGeNET
Description
The functional polymorphism of NBS1 p.Glu185Gln is associated with an increased risk of lung cancer in Chinese populations: case-control and a meta-analysis.
Pubmed
25771871
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.013463811125492
Year of publication
2014
Drugs