Annotation Detail
Information
- Associated Genes
- UGT2B15
- Associated Variants
-
UGT2B15 MUTATION
UGT2B15 MUTATION
UGT2B15 p.Lys523Thr (p.K523T) ( ENST00000338206.6 )
UGT2B15 c.1314-1862C>T ( ENST00000338206.6 )
UGT2B15 p.Lys523Thr (p.K523T) ( ENST00000338206.6 )
UGT2B15 c.1314-1862C>T ( ENST00000338206.6 ) - Associated Disease
- Rectal Carcinoma
- Source Database
- DisGeNET
- Description
- A haplotype in UGT2B15 containing a functional variant (rs4148269, K523T) and an intronic SNP (rs6837575) was found to affect rectal cancer risk overall (OR = 2.57, 95% CI = 1.21–5.04) and in females (OR = 3.08, 95% CI = 1.08–8.74).
- Pubmed
- 24822274
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs