Annotation Detail

Information
Associated Genes
IL10RA
Associated Variants
IL10RA MUTATION
IL10RA MUTATION
IL10RA c.*1730G>A ( ENST00000227752.8 )
IL12RB2 p.Pro779= (p.P779=) ( ENST00000696755.1, ENST00000544434.5, ENST00000696757.1, ENST00000648487.1, ENST00000262345.5, ENST00000696754.1, ENST00000541374.6, ENST00000674203.2 )
IL12RB2 p.Pro779= (p.P779=) ( ENST00000648487.1, ENST00000262345.5, ENST00000696754.1, ENST00000541374.6, ENST00000674203.2, ENST00000696755.1, ENST00000696757.1, ENST00000544434.5 )
IL12RB2 p.Pro779= (p.P779=) ( ENST00000696757.1, ENST00000544434.5, ENST00000696755.1, ENST00000674203.2, ENST00000541374.6, ENST00000696754.1, ENST00000648487.1, ENST00000262345.5 )
IL10RA c.*1730G>A ( ENST00000227752.8 )
IL12RB2 p.Pro779= (p.P779=) ( ENST00000262345.5, ENST00000541374.6, ENST00000544434.5, ENST00000648487.1, ENST00000674203.2, ENST00000696754.1, ENST00000696755.1, ENST00000696757.1 )
IL12RB2 p.Pro779= (p.P779=) ( ENST00000262345.5, ENST00000541374.6, ENST00000544434.5, ENST00000648487.1, ENST00000674203.2, ENST00000696754.1, ENST00000696755.1, ENST00000696757.1 )
IL12RB2 p.Pro779= (p.P779=) ( ENST00000262345.5, ENST00000541374.6, ENST00000544434.5, ENST00000648487.1, ENST00000674203.2, ENST00000696754.1, ENST00000696755.1, ENST00000696757.1 )
Associated Disease
cervical squamous cell carcinoma
Source Database
DisGeNET
Description
Cervical SCC risk was associated with the minor alleles of the IL10RA rs9610 3' UTR SNP (OR=1.76, 95% CI=1.15-2.68) and two synonymous IL12RB2 SNPs (rs4297265, OR=0.46, 95% CI=0.26-0.82; rs2229546, OR=0.43, 95% CI=0.21-0.87).
Pubmed
23280621
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2013
Drugs