Annotation Detail

Information
Associated Genes
IL2RA
Associated Variants
IL2RA c.64+5006A>G ( ENST00000256876.10, ENST00000447847.2, ENST00000697424.1, ENST00000379959.8, ENST00000379954.5 )
NC_000010.11:g.6072697C>A
NC_000010.11:g.6080046T>A
IL2RA c.64+5006A>G ( ENST00000256876.10, ENST00000379954.5, ENST00000379959.8, ENST00000447847.2, ENST00000697424.1 )
NC_000010.11:g.6072697C>A
NC_000010.11:g.6080046T>A
Associated Disease
multiple sclerosis
Source Database
DisGeNET
Description
Using a cohort of over 700 AAV patients, two SLE case-control studies and an SLE trio collection (totalling over 1000 SLE patients), and a TaqMan genotyping approach, we tested 3 SNPs in the IL2RA locus, rs11594656, rs2104286 & rs41295061, each with a prior association with autoimmune disease; rs11594656 and rs41295061 with type 1 diabetes (T1D) and rs2104286 with multiple sclerosis (MS) and T1D.
Pubmed
19265545
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.303190007587811
Year of publication
2009
Drugs