Annotation Detail

Information
Associated Genes
IL2RA
Associated Variants
IL2RA c.64+5006A>G ( ENST00000256876.10, ENST00000447847.2, ENST00000697424.1, ENST00000379959.8, ENST00000379954.5 )
IL2RA c.64+2338A>T ( ENST00000256876.10, ENST00000447847.2, ENST00000379959.8, ENST00000379954.5, ENST00000697424.1 )
IL2RA c.64+2338A>G ( ENST00000697424.1, ENST00000379959.8, ENST00000379954.5, ENST00000256876.10, ENST00000447847.2 )
NC_000010.11:g.6080046T>A
rs3136534
rs2069762
IL21 SNV
IL2RA c.64+5006A>G ( ENST00000256876.10, ENST00000379954.5, ENST00000379959.8, ENST00000447847.2, ENST00000697424.1 )
IL2RA c.64+2338A>T ( ENST00000256876.10, ENST00000379954.5, ENST00000379959.8, ENST00000447847.2, ENST00000697424.1 )
IL2RA c.64+2338A>G ( ENST00000256876.10, ENST00000379954.5, ENST00000379959.8, ENST00000447847.2, ENST00000697424.1 )
NC_000010.11:g.6080046T>A
rs3136534
rs2069762
IL21 SNV
Associated Disease
Addison's disease due to autoimmunity
Source Database
DisGeNET
Description
The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, rs3136534, rs11594656, rs3118470 and rs2104286) was tested in 223 patients and 672 healthy controls.
Pubmed
25347332
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2015
Drugs