Annotation Detail

Information
Associated Genes
SLC45A2
Associated Variants
SLC45A2 p.Leu374Phe (p.L374F) ( ENST00000296589.9, ENST00000382102.7, ENST00000509381.1 )
SLC45A2 p.Leu374Phe (p.L374F) ( ENST00000296589.9, ENST00000382102.7, ENST00000509381.1 )
Associated Disease
melanoma
Source Database
DisGeNET
Description
A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma.
Pubmed
19578363
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.261626930331229
Year of publication
2009
Drugs