Annotation Detail

Information
Associated Genes
ADRB2
Associated Variants
SCNN1A p.Trp552Arg (p.W552R) ( ENST00000540037.5, ENST00000396966.6, ENST00000228916.7, ENST00000543768.1, ENST00000360168.7 )
rs180088
rs1800587
IL1B SNV
AGTR1 c.*86A>C ( ENST00000349243.8, ENST00000402260.2, ENST00000404754.2, ENST00000418473.7, ENST00000461609.1, ENST00000474935.5, ENST00000475347.5, ENST00000497524.5 )
SCNN1A p.Trp552Arg (p.W552R) ( ENST00000228916.7, ENST00000360168.7, ENST00000396966.6, ENST00000540037.5, ENST00000543768.1 )
rs180088
rs1800587
IL1B SNV
AGTR1 c.*86A>C ( ENST00000349243.8, ENST00000402260.2, ENST00000404754.2, ENST00000418473.7, ENST00000461609.1, ENST00000474935.5, ENST00000475347.5, ENST00000497524.5 )
CTLA4 UNKNOWN
CTLA4 UNKNOWN
Associated Disease
Metabolic syndrome X
Source Database
DisGeNET
Description
In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.99-1.65), PAI1 rs1799768 (OR 1.07, 95% CI 1.01-1.14), SCNN1A rs5742912 (OR 1.22, 95% CI 1.01-1.47), and IL1A rs1800587 (OR 1.07, 95% CI 1.01-1.15), whereas the AGTR1 rs5186 (OR 0.93, 95% CI 0.87-0.99) was associated with decreased risk.
Pubmed
19619703
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.013463811125492
Year of publication
2009
Drugs