Annotation Detail

Information
Associated Genes
ACR
Associated Variants
NC_000016.10:g.10877045G>A
CIITA p.Gly501Ala (p.G501A) ( ENST00000618327.4, ENST00000324288.14, ENST00000381835.9 )
NC_000016.10:g.10877045G>A
CIITA p.Gly501Ala (p.G501A) ( ENST00000324288.14, ENST00000381835.9, ENST00000618327.4 )
Associated Disease
rheumatoid arthritis
Source Database
DisGeNET
Description
1302 patients fulfilling the 1987 ACR classification criteria for RA were genotyped for the MHCIITA rs3087456 and rs4774 gene polymorphisms to determine the influence of MHCIITA variants in the development of CV events.
Pubmed
22272574
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00570027931368637
Year of publication
2012
Drugs