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
- squamous 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
- 0.00609127331760558
- Year of publication
- 2011
Drugs