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
- Autoimmune Primary Adrenal Insufficiency
- 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