Annotation Detail
Information
- Associated Genes
- CD40
- Associated Variants
-
KIF5A c.1717-152C>G
(
ENST00000455537.7,
ENST00000674619.1,
ENST00000286452.5,
ENST00000676457.1 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000525799.1, ENST00000538253.5, ENST00000420377.6, ENST00000528414.5, ENST00000460620.5, ENST00000359785.10 )
CD40 c.51+914T>G ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 )
rs1160542
STAT4 c.274-23582A>C ( ENST00000392320.7, ENST00000358470.8, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
CTLA4 c.*1148+236G>A
TNFAIP3 c.296-831G>T ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
C5 c.*548-5758C>T ( ENST00000696281.1 )
KIF5A c.1717-152C>G ( ENST00000286452.5, ENST00000455537.7, ENST00000674619.1, ENST00000676457.1 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 )
CD40 c.51+914T>G ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 )
rs1160542
STAT4 c.274-23582A>C ( ENST00000358470.8, ENST00000392320.7, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
CTLA4 c.*1148+236G>A
TNFAIP3 c.296-831G>T ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
C5 c.*548-5758C>T ( ENST00000696281.1 ) - Associated Disease
- rheumatoid arthritis
- Source Database
- DisGeNET
- Description
- Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs4810485 (CD40), rs5029937 (6q23), rs10760130 (TRAF1/C5) and rs7574865 (STAT4)) were significantly associated with RA by meta-analysis.
- Pubmed
- 20498205
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.277186331563243
- Year of publication
- 2010
Drugs