Annotation Detail
Information
- Associated Genes
- TERT
- 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 )
TERT c.1573+4881A>G ( 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 )
TERT c.1573+4881A>G ( ENST00000310581.10, ENST00000334602.10 )
rs4295627
rs4977756 - Associated Disease
- Glioma
- Source Database
- DisGeNET
- Description
- We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)).
- Pubmed
- 19578367
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.269237234271142
- Year of publication
- 2009
Drugs