Annotation Detail
Information
- Associated Genes
- CDKN2B
- Associated Variants
-
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 )
rs4977756
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 )
rs4977756 - Associated Disease
- Glioma
- Source Database
- DisGeNET
- Description
- In analyses including glioma cases with a family history of brain tumours (n = 104) and control subjects free of glioma at baseline, three of seven SNPs were associated with glioma risk: rs2736100 (5p15.33, TERT), rs4977756 (9p21.3, CDKN2A-CDKN2B) and rs6010620 (20q13.33, RTEL1).
- Pubmed
- 23115063
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.135982732844335
- Year of publication
- 2013
Drugs