Annotation Detail

Information
Associated Genes
NR1I2
Associated Variants
ENSG00000285585 c.*2-24111G>A, NR1I2 c.95+266G>A ( ENST00000337940.4, ENST00000466380.6, ENST00000393716.8 )
NR1I2 c.912-93G>A ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 )
ENSG00000285585 c.*2-24111G>A, NR1I2 c.95+266G>A ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 )
NR1I2 c.912-93G>A ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 )
Associated Disease
ulcerative colitis
Source Database
DisGeNET
Description
PXR A7635G (rs6785049) variant genotype was associated with a higher risk of UC diagnosis before the age of 40 years and with a higher risk of extensive disease (OR: 1.34, 95% CI: 1.03-1.75 and OR: 2.49, 95% CI: 1.24-5.03, respectively).
Pubmed
21245992
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0102587093122591
Year of publication
2011
Drugs