Annotation Detail
Information
- Associated Genes
- PTGS2
- Associated Variants
-
rs28362491
rs28362491
PTGS2 c.*427T>C ( ENST00000680451.1, ENST00000367468.10 )
IL1B c.-118C>T
NC_000002.12:g.112837290A>G
PTGS1 c.95-3294A>G ( ENST00000223423.8, ENST00000362012.7, ENST00000540753.6, ENST00000619306.5 )
PTGS1 p.Leu237Met (p.L237M) ( ENST00000223423.8, ENST00000362012.7, ENST00000373698.7, ENST00000540753.6, ENST00000619306.5 )
PTGS2 c.*427T>C ( ENST00000367468.10, ENST00000680451.1 )
IL1B c.-118C>T
NC_000002.12:g.112837290A>G
PTGS1 c.95-3294A>G ( ENST00000223423.8, ENST00000362012.7, ENST00000540753.6, ENST00000619306.5 )
PTGS1 p.Leu237Met (p.L237M) ( ENST00000223423.8, ENST00000362012.7, ENST00000373698.7, ENST00000540753.6, ENST00000619306.5 ) - Associated Disease
- Rectal Carcinoma
- Source Database
- DisGeNET
- Description
- Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for polymorphisms rs28362491 (NFKB1), rs1213266/rs5789 (PTGS1), rs5275 (PTGS2), and rs16944/rs1143627 (IL1B) using TaqMan single nucleotide polymorphism genotyping assays.
- Pubmed
- 25304949
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2014
Drugs