Annotation Detail

Information
Associated Genes
ABO
Associated Variants
ABO c.28+1349G>A ( ENST00000538324.2, ENST00000611156.4, ENST00000679909.1 )
ABO c.28+1349G>A ( ENST00000538324.2, ENST00000611156.4, ENST00000679909.1 )
Associated Disease
Graves Disease
Source Database
DisGeNET
Description
In this study, we carried out a three-stage study in 9529 patients with GD and 9984 controls to identify new risk loci for GD and found genome-wide significant associations in the overall populations for five novel susceptibility loci: the GPR174-ITM2A at Xq21.1, C1QTNF6-RAC2 at 22q12.3-13.1, SLAMF6 at 1q23.2, ABO at 9q34.2 and an intergenic region harboring two non-coding RNAs at 14q32.2 and one previous indefinite locus, TG at 8q24.22 (Pcombined < 5 × 10(-8)).
Pubmed
23612905
Original source reporting the Gene Disease association
GWASCAT
DisGENET score for the Gene Disease association
0.122638473850682
Year of publication
2014
Drugs