Annotation Detail

Information
Associated Genes
SIX1
Associated Variants
rs10483727
rs2157719
rs10483727
rs2157719
Associated Disease
Glaucoma, Primary Open Angle
Source Database
DisGeNET
Description
The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cases and 3,487 controls) identified significant associations between two loci and POAG: the CDKN2BAS region on 9p21 (rs2157719 [G], OR = 0.69 [95%CI 0.63-0.75], p = 1.86×10⁻¹⁸), and the SIX1/SIX6 region on chromosome 14q23 (rs10483727 [A], OR = 1.32 [95%CI 1.21-1.43], p = 3.87×10⁻¹¹).
Pubmed
22570617
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Year of publication
2012
Drugs