Annotation Detail
Information
- Associated Genes
- IDH2
- Associated Variants
-
PHLDB1 c.-199A>G
(
ENST00000361417.6 )
RTEL1 c.1037+140A>G, RTEL1-TNFRSF6B c.1121+140A>G ( ENST00000318100.9, ENST00000360203.11, ENST00000370018.7, ENST00000508582.7, ENST00000492259.6 )
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
rs4295627
PHLDB1 c.-199A>G ( ENST00000361417.6 )
RTEL1 c.1037+140A>G, RTEL1-TNFRSF6B c.1121+140A>G ( ENST00000318100.9, ENST00000360203.11, ENST00000370018.7, ENST00000508582.7, ENST00000492259.6 )
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
rs4295627 - Associated Disease
- Glioma
- Source Database
- DisGeNET
- Description
- Case-control analyses stratified into 4 molecular classes (defined by 1p-19q status, IDH mutation, and EGFR amplification) showed an association of rs4295627 and rs498872 with IDH-mutated gliomas (P < 10(-3)) and rs2736100 and rs6010620 with IDH wild-type gliomas (P < 10(-3) and P = .03).
- Pubmed
- 23161787
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0519425436124385
- Year of publication
- 2013
Drugs