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
Also, the SNP rs401681 in the TERT-CLPTM1L locus was replicated for the association with melanoma risk.
Pubmed
21116649
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.125548389573445
Year of publication
2011
Drugs