Annotation Detail

Information
Associated Genes
CYP1B1
Associated Variants
CYP1B1 p.Asn453Ser (p.N453S) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Asn453Thr (p.N453T) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Asn453Ser (p.N453S) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP1B1 p.Asn453Thr (p.N453T) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
Associated Disease
colorectal cancer
Source Database
DisGeNET
Description
Carriers of variant Ser allele in codon 453 of cytochrome P450 1B1 (rs1800440) were at a significantly lower risk of colorectal cancer compared to carriers of the wild-type allele (adjusted odds ratio, aOR=0.68, CI=0.51-0.89, p=0.006).
Pubmed
20878130
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0298375379737466
Year of publication
2010
Drugs