Annotation Detail

Information
Associated Genes
REST
Associated Variants
REST c.982+414G>T ( ENST00000309042.12, ENST00000622863.4, ENST00000640168.2, ENST00000640343.2, ENST00000675105.1, ENST00000675341.1 )
REST c.982+414G>T ( ENST00000309042.12, ENST00000622863.4, ENST00000640168.2, ENST00000640343.2, ENST00000675105.1, ENST00000675341.1 )
Associated Disease
age related macular degeneration
Source Database
DisGeNET
Description
In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we identified two new susceptibility loci for exudative AMD: TNFRSF10A-LOC389641 on chromosome 8p21 (rs13278062, combined P = 1.03 × 10(-12), odds ratio = 0.73) and REST-C4orf14-POLR2B-IGFBP7 on chromosome 4q12 (rs1713985, combined P = 2.34 × 10(-8), odds ratio = 1.30).
Pubmed
21909106
Original source reporting the Gene Disease association
GWASCAT
DisGENET score for the Gene Disease association
0.122638473850682
Year of publication
2011
Drugs