Annotation Detail
Information
- Associated Genes
- CDKN2B
- 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
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 )
rs4295627
rs4977756 - Associated Disease
- Glioma
- Source Database
- DisGeNET
- Description
- Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in five loci at 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A/CDKN2B), 20q13.33 (rs6010620, RTEL1), and 11q23.3 (rs498872, PHLDB1) to be associated with glioma risk.
- Pubmed
- 20847058
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.135982732844335
- Year of publication
- 2010
Drugs