Annotation Detail

Information
Associated Genes
UGT1A1
Associated Variants
UGT1A6 c.862-3041G>T, UGT1A5 c.868-3041G>T, UGT1A9 c.856-3041G>T, UGT1A7 c.856-3041G>T, UGT1A4 c.868-3041G>T, UGT1A8 c.856-3041G>T, UGT1A10 c.856-3041G>T, UGT1A3 c.868-3041G>T, UGT1A1 c.864+2842G>T ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.862-3041G>T, UGT1A5 c.868-3041G>T, UGT1A9 c.856-3041G>T, UGT1A7 c.856-3041G>T, UGT1A4 c.868-3041G>T, UGT1A8 c.856-3041G>T, UGT1A10 c.856-3041G>T, UGT1A3 c.868-3041G>T, UGT1A1 c.864+2842G>T ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
Associated Disease
cholecystolithiasis
Source Database
DisGeNET
Description
UGT1A1 (rs6742078; P = .018) was associated with overall gallstone risk.
Pubmed
20837016
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0075244275481278
Year of publication
2010
Drugs