Annotation Detail

Information
Associated Genes
NQO1
Associated Variants
CYP1B1 p.Val432= (p.V432=) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Leu432Val (p.L432V) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
Associated Disease
Carcinoma of lung
Source Database
DisGeNET
Description
The combination of CYP1B1 Leu(432)Val and NQO1 C(609)T appeared to be associated with the highest risk of lung cancer (OR = 4.14, 95% CI 1.60-10.74), although no combinations differed significantly from the risk associated with CYP1B1 Leu(432)Val alone.
Pubmed
16051642
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0081432561624091
Year of publication
2005
Drugs