Annotation Detail
Information
- Associated Genes
- SLCO1A2
- Associated Variants
-
SLCO1B1 p.Val174Ala (p.V174A)
(
ENST00000256958.3 )
SLCO1A2 c.1271+534G>A ( ENST00000683939.1, ENST00000458504.5, ENST00000307378.10 )
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 )
SLCO1B1 p.Val174Ala (p.V174A) ( ENST00000256958.3 )
SLCO1A2 c.1271+534G>A ( ENST00000307378.10, ENST00000458504.5, ENST00000683939.1 )
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
- cholelithiasis
- Source Database
- DisGeNET
- Description
- By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P = .003), rs4149056 (SLCO1B1; P = .003), and rs4149000 (SLCO1A2; P = .015) were associated with gallstone composition.
- Pubmed
- 20837016
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2010
Drugs