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
melanoma
Source Database
DisGeNET
Description
Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma.
Pubmed
19578363
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.125548389573445
Year of publication
2009
Drugs