Annotation Detail

Information
Associated Genes
CSF2
Associated Variants
CSF2 p.Ile117Thr (p.I117T) ( ENST00000296871.4 )
rs27438
rs3181225
IL12B c.89-912G>A ( ENST00000231228.3, ENST00000696750.1 )
CSF2 p.Ile117Thr (p.I117T) ( ENST00000296871.4 )
rs27438
rs3181225
IL12B c.89-912G>A ( ENST00000231228.3, ENST00000696750.1 )
Associated Disease
CARCINOMA OF VULVA
Source Database
DisGeNET
Description
We also observed significantly increased risk of HPV-positive vulvar cancers associated with variant alleles in CSF2 (rs25882 and rs27438, 26-28% increased risk) and IL-12B (rs2569254 and rs3181225, 40-41% increased risk) genes.
Pubmed
26241630
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2015
Drugs