Annotation Detail
Information
- Associated Genes
- CDKN2A
- 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 )
rs2252586
EGFR c.89-50630A>G ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000420316.6, ENST00000455089.5 )
EGFR c.89-50630A>T ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000420316.6, ENST00000455089.5 )
rs4295627
rs4977756
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 )
rs2252586
EGFR c.89-50630A>G ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000420316.6, ENST00000455089.5 )
EGFR c.89-50630A>T ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000420316.6, ENST00000455089.5 )
rs4295627
rs4977756 - Associated Disease
- Glioma
- Source Database
- DisGeNET
- Description
- Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci influencing glioma risk: rs2736100 (TERT), rs11979158 and rs2252586 (EGFR), rs4295627 (CCDC26), rs4977756 (CDKN2A/CDKN2B), rs498872 (PHLDB1), and rs6010620 (RTEL1).
- Pubmed
- 23161787
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.172872540185457
- Year of publication
- 2013
Drugs