Annotation Detail
Information
- Associated Genes
- TYMS
- Associated Variants
-
TYMS c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG
(
ENST00000323274.15 )
TYMS c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG ( ENST00000323274.15 )
TYMS c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG ( ENST00000323274.15 )
TYMS c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG ( ENST00000323274.15 )
TYMS c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG ( ENST00000323274.15 )
TYMS c.-86_-13delinsCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG ( ENST00000323274.15 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 ) - Associated Disease
- colorectal cancer
- Source Database
- DisGeNET
- Description
- Results for other variants varied across individual studies; in our meta-analyses we observed some evidence for SHMT 1420C>T (rs1979277) ((odds ratio) OR = 0.85; 95% confidence interval (CI) = 0.73-1.00 for TT v. CC) and TYMS 5' 28 bp repeat (rs34743033) and CRC risk (OR = 0.84; 95% CI = 0.75-0.94 for 2R/3R v. 3R/3R and OR = 0.82; 95% CI = 0.69-0.98 for 2R/2R v. 3R/3R).
- Pubmed
- 23401104
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.111758699033395
- Year of publication
- 2013
Drugs