Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Ala305= (p.A305=)
(
ENST00000310581.10,
ENST00000334602.10 )
CLPTM1L c.1532+9G>A ( ENST00000320895.10, ENST00000507807.3, ENST00000630539.1 )
TERT p.Ala305= (p.A305=) ( ENST00000310581.10, ENST00000334602.10 )
CLPTM1L c.1532+9G>A ( ENST00000320895.10, ENST00000507807.3, ENST00000630539.1 ) - Associated Disease
- Nasopharyngeal carcinoma
- Source Database
- DisGeNET
- Description
- Four out of six genetic variants implicated in the recent NPC GWAS were associated with NPC risk (p (trend) ≤ 0.03), as well as two variants (rs402710 and rs2736098) on the TERT locus at 5p15.33 (p = 0.004 and p = 0.04, respectively).
- Pubmed
- 23085811
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2012
Drugs