Annotation Detail

Information
Associated Genes
MC1R
Associated Variants
IRF4 c.492+386C>T ( ENST00000380956.9, ENST00000696871.1 )
IRF4 c.492+386C>T ( ENST00000380956.9, ENST00000696871.1 )
Associated Disease
Experimental Organism Basal Cell Carcinoma
Source Database
DisGeNET
Description
Along with two known pigmentation loci, MC1R and OCA2, the IRF4 rs12203592 T allele was associated with an increased risk of each type of skin cancer (P value, 6.6 × 10(-4) for melanoma, 7.0 × 10(-7) for SCC, and 0.04 for BCC).
Pubmed
21270109
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00461451182536516
Year of publication
2011
Drugs