Annotation Detail
Information
- Associated Genes
- PTPN22
- Associated Variants
-
PTPN22 MUTATION
PTPN22 MUTATION
IL2RA c.64+5102G>A ( 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 )
RSBN1 p.Arg31= (p.R31=) ( ENST00000612242.4, ENST00000261441.9 )
RSBN1 p.Arg31= (p.R31=) ( ENST00000612242.4, ENST00000261441.9 )
PTPN22 c.2282-1183C>T ( ENST00000525799.1, ENST00000538253.5, ENST00000420377.6, ENST00000528414.5, ENST00000460620.5, ENST00000359785.10 )
PTPN22 c.2054-852T>C ( ENST00000528414.5, ENST00000420377.6, ENST00000525799.1, ENST00000538253.5, ENST00000359785.10, ENST00000460620.5 )
PTPN22 c.915+1414G>A ( ENST00000528414.5, ENST00000420377.6, ENST00000538253.5, ENST00000525799.1, ENST00000359785.10, ENST00000460620.5 )
IL2RA c.64+5102G>A ( 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 )
RSBN1 p.Arg31= (p.R31=) ( ENST00000261441.9, ENST00000612242.4 )
RSBN1 p.Arg31= (p.R31=) ( ENST00000261441.9, ENST00000612242.4 )
PTPN22 c.2282-1183C>T ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 )
PTPN22 c.2054-852T>C ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 )
PTPN22 c.915+1414G>A ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 ) - Associated Disease
- thyroiditis
- Source Database
- DisGeNET
- Description
- We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects.
- Pubmed
- 20615141
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2010
Drugs