Annotation Detail

Information
Associated Genes
OR2AK2
Associated Variants
TNFAIP3 p.Phe127Ser (p.F127S) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
TNFAIP3 p.Phe127Cys (p.F127C) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
TNFAIP3 p.Phe127Ser (p.F127S) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
TNFAIP3 p.Phe127Cys (p.F127C) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
Associated Disease
Lupus Erythematosus, Systemic
Source Database
DisGeNET
Description
Association of rs2230926 G allele with SLE was replicated in Japanese (allelic association P = .033, odds ratio [OR] 1.47, recessive model P = .023, OR 8.52).
Pubmed
20617138
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2010
Drugs