Annotation Detail

Information
Associated Genes
CYP1A2
Associated Variants
CYP1A2 p.Phe21Leu (p.F21L) ( ENST00000343932.5 )
NQO1 p.Pro187Ser (p.P187S) ( ENST00000439109.6, ENST00000379046.6, ENST00000379047.7, ENST00000564043.1, ENST00000320623.10, ENST00000561500.5 )
CYP1A2 p.Phe21Leu (p.F21L) ( ENST00000343932.5 )
NQO1 p.Pro187Ser (p.P187S) ( ENST00000320623.10, ENST00000379046.6, ENST00000379047.7, ENST00000439109.6, ENST00000561500.5, ENST00000564043.1 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenylalanine21leucine (C63G) polymorphisms do not play a significant role in breast cancer susceptibility in North Indian women.
Pubmed
21329464
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00624316305784698
Year of publication
2011
Drugs