Annotation Detail
Information
- Associated Genes
- TERF1
- Associated Variants
-
TERT c.1950+245C>T
(
ENST00000310581.10,
ENST00000334602.10 )
TERT c.1573+4881A>G ( ENST00000310581.10, ENST00000334602.10 )
TERF1 c.887+875A>G ( ENST00000276602.10, ENST00000276603.10, ENST00000517390.2, ENST00000678518.1, ENST00000678860.1, ENST00000679115.1 )
TERT c.1950+245C>T ( ENST00000310581.10, ENST00000334602.10 )
TERT c.1573+4881A>G ( ENST00000310581.10, ENST00000334602.10 )
TERF1 c.887+875A>G ( ENST00000276602.10, ENST00000276603.10, ENST00000517390.2, ENST00000678518.1, ENST00000678860.1, ENST00000679115.1 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2242652) and one SNP in the TRF1 gene (rs2981096) showed significant associations with the risk of melanoma.
- Pubmed
- 21116649
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2011
Drugs