Annotation Detail

Information
Associated Genes
PHLDB1
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
Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A/CDKN2B rs4977756, RTEL1 rs6010620, and PHLDB1 rs498872).
Pubmed
20212223
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.252182546635211
Year of publication
2010
Drugs