Annotation Detail

Information
Associated Genes
ADRB2
Associated Variants
ADRB1 p.Gly389Arg (p.G389R) ( ENST00000369295.4 )
ADRB2 p.Glu27Gln (p.E27Q) ( ENST00000305988.6 )
ADRB2 p.Glu27Ter (p.E27*) ( ENST00000305988.6 )
ADRB3 p.Trp64Arg (p.W64R) ( ENST00000345060.5 )
ADRB1 p.Gly389Arg (p.G389R) ( ENST00000369295.4 )
ADRB2 p.Glu27Gln (p.E27Q) ( ENST00000305988.6 )
ADRB2 p.Glu27Ter (p.E27*) ( ENST00000305988.6 )
ADRB3 p.Trp64Arg (p.W64R) ( ENST00000345060.5 )
Associated Disease
obesity
Source Database
DisGeNET
Description
Several common single nucleotide polymorphisms (SNPs) including Gly389Arg in beta(1)-AR, Gln27Glu in beta(2)-AR, and Trp64Arg in beta(3)-AR in humans could alter receptor function and these variations of beta-ARs were shown to have certain association with obesity.
Pubmed
17611309
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.334657861092336
Year of publication
2007
Drugs