Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 c.-93G>A
(
ENST00000536378.5,
ENST00000673673.2 )
LRRFIP2 c.1951-18A>G ( ENST00000336686.9, ENST00000354379.8, ENST00000396428.6, ENST00000421276.6, ENST00000440230.5 )
rs13098279
MLH1 c.-93G>A ( ENST00000536378.5, ENST00000673673.2 )
LRRFIP2 c.1951-18A>G ( ENST00000336686.9, ENST00000354379.8, ENST00000396428.6, ENST00000421276.6, ENST00000440230.5 )
rs13098279 - Associated Disease
- colorectal carcinoma
- Source Database
- DisGeNET
- Description
- We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region are associated with MLH1 promoter island methylation, loss of MLH1 protein expression, and microsatellite instability (MSI) in colorectal cancer (CRC) patients.
- Pubmed
- 23240038
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.082367031978602
- Year of publication
- 2012
Drugs