Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT c.3032+1092C>T
(
ENST00000310581.10,
ENST00000334602.10 )
TERT c.2654+269T>C ( ENST00000310581.10, ENST00000334602.10 )
TERT c.2287-3133G>T ( ENST00000310581.10, ENST00000334602.10 )
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
TERT c.1573+4881A>G ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala305= (p.A305=) ( ENST00000310581.10, ENST00000334602.10 )
TERT c.-1382T>C
TERT c.3032+1092C>T ( ENST00000310581.10, ENST00000334602.10 )
TERT c.2654+269T>C ( ENST00000310581.10, ENST00000334602.10 )
TERT c.2287-3133G>T ( ENST00000310581.10, ENST00000334602.10 )
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
TERT c.1573+4881A>G ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala305= (p.A305=) ( ENST00000310581.10, ENST00000334602.10 )
TERT c.-1382T>C - Associated Disease
- Colonic Polyps
- Source Database
- DisGeNET
- Description
- None of the investigated TERT SNPs (rs2736122, rs2853676, rs2735940, rs2736098, rs2075786, rs2736100, rs4975605) were found to be associated with risk of CRC nor colonic polyps.
- Pubmed
- 22495810
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs