Annotation Detail
Information
- Associated Genes
- CLPTM1L
- Associated Variants
-
CLPTM1L c.1316-153G>A
(
ENST00000320895.10,
ENST00000507807.3,
ENST00000630539.1 )
CLPTM1L c.1316-153G>A ( ENST00000320895.10, ENST00000507807.3, ENST00000630539.1 ) - Associated Disease
- Experimental Organism Basal Cell Carcinoma
- Source Database
- DisGeNET
- Description
- The risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CLPTM1L (rs401681) was also associated with an earlier median onset of BCC, 31 years (95% CI: 28-37) compared with 41 years (95% CI: 32-48, HR=1.44, 95% CI: 1.08-1.93, P=0.014).
- Pubmed
- 25159867
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2014
Drugs