Annotation Detail

Information
Associated Genes
IRF4
Associated Variants
IRF4 c.492+386C>T ( ENST00000380956.9, ENST00000696871.1 )
IRF4 c.492+386C>T ( ENST00000380956.9, ENST00000696871.1 )
Associated Disease
skin carcinoma
Source Database
DisGeNET
Description
As for the number of NMSCs, we identified two independent SNPs on chr6 and one SNP on chromosome 14: rs12203592 in IRF4 (P = 7.2 × 10(-14); P = 1.8 × 10(-8) in the discovery set and P = 6.7 × 10(-7) in the replication set), rs12202284 between IRF4 and EXOC2 (P = 5.0 × 10(-8); P = 6.6 × 10(-7) in the discovery set and P = 3.0 × 10(-3) in the replication set) and rs8015138 upstream of GNG2 (P = 6.6 × 10(-8); P = 5.3 × 10(-7) in the discovery set and P = 0.01 in the replication set).
Pubmed
23548203
Original source reporting the Gene Disease association
GWASCAT
DisGENET score for the Gene Disease association
0.12
Year of publication
2014
Drugs