Annotation Detail
Information
- Associated Genes
- BANK1
- Associated Variants
-
BANK1 c.71-43T>C
(
ENST00000322953.9,
ENST00000428908.5,
ENST00000444316.2,
ENST00000504592.5,
ENST00000508653.5 )
BANK1 p.Arg61His (p.R61H) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 p.Arg61Leu (p.R61L) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 p.Ala383Thr (p.A383T) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 c.71-43T>C ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 p.Arg61His (p.R61H) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 p.Arg61Leu (p.R61L) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 p.Ala383Thr (p.A383T) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- To investigate 1 functional (rs17266594) and 2 potentially functional (rs10516487 and rs3733197) BANK1 variants, which were previously identified as systemic lupus erythematosus (SLE) susceptibility markers, to test whether they are associated with rheumatoid arthritis (RA).
- Pubmed
- 19180476
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.264646466664167
- Year of publication
- 2009
Drugs