Annotation Detail

Information
Associated Genes
OR2H2
Associated Variants
OR2H2 MUTATION
OR2H2 MUTATION
OR2H2 c.*99C>T ( ENST00000355973.7, ENST00000641840.1 )
ATF6B c.*216T>C ( ENST00000375201.8, ENST00000375203.8, ENST00000453203.2 )
rs7769979
OR2H2 c.*99C>T ( ENST00000355973.7, ENST00000641840.1 )
ATF6B c.*216T>C ( ENST00000375201.8, ENST00000375203.8, ENST00000453203.2 )
rs7769979
Associated Disease
Lupus Erythematosus, Systemic
Source Database
DisGeNET
Description
Sequential removal of SLE-associated DRB1 haplotypes revealed independent effects due to variation within OR2H2 (extended class I, rs362521, p = 0.006), CREBL1 (class III, rs8283, p = 0.01), and DQB2 (class II, rs7769979, p = 0.003, and rs10947345, p = 0.0004).
Pubmed
19851445
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00263847385068233
Year of publication
2009
Drugs