Annotation Detail

Information
Associated Genes
CNGB1
Associated Variants
rs7130588
IL6R c.1067-700C>T ( ENST00000344086.8, ENST00000368485.8 )
rs7130588
IL6R c.1067-700C>T ( ENST00000344086.8, ENST00000368485.8 )
Associated Disease
asthma
Source Database
DisGeNET
Description
Two loci were confirmed to associate with asthma risk in the replication cohorts and reached genome-wide significance in the combined analysis of all available studies (n=57,800): rs4129267 (OR 1·09, combined p=2·4×10(-8)) in the interleukin-6 receptor (IL6R) gene and rs7130588 (OR 1·09, p=1·8×10(-8)) on chromosome 11q13.5 near the leucine-rich repeat containing 32 gene (LRRC32, also known as GARP).
Pubmed
21907864
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2011
Drugs