Annotation Detail
Information
- Associated Genes
- MGMT
- Associated Variants
-
MGMT p.Ile143Val (p.I143V)
(
ENST00000651593.1,
ENST00000306010.8 )
MGMT p.Lys178Arg (p.K178R) ( ENST00000306010.8, ENST00000651593.1 )
MGMT p.Ile143Val (p.I143V) ( ENST00000306010.8, ENST00000651593.1 )
MGMT p.Lys178Arg (p.K178R) ( ENST00000306010.8, ENST00000651593.1 )
MGMT UNKNOWN
MGMT UNKNOWN - Associated Disease
- colorectal carcinoma
- Source Database
- DisGeNET
- Description
- Of note, the MGMT Lys(178)Arg (rs2308237) SNP, in linkage disequilibrium with the previously reported MGMT Ile(143)Val SNP, had an inverse association with colorectal cancer risk (MGMT Lys(178)Arg: odds ratio, 0.52; 95% confidence interval, 0.35-0.78; unadjusted P(trend) = 0.0003 for the additive model; gene-based test global P = 0.00003).
- Pubmed
- 18268114
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0143864192202561
- Year of publication
- 2008
Drugs