Annotation Detail

Information
Associated Genes
ADRB2
Associated Variants
ADRB2 p.Gly16Arg (p.G16R) ( ENST00000305988.6 )
ADRB2 p.Glu27Gln (p.E27Q) ( ENST00000305988.6 )
ADRB2 p.Glu27Ter (p.E27*) ( ENST00000305988.6 )
ADRB2 p.Thr164Ile (p.T164I) ( ENST00000305988.6 )
ADRB2 p.Gly16Arg (p.G16R) ( ENST00000305988.6 )
ADRB2 p.Glu27Gln (p.E27Q) ( ENST00000305988.6 )
ADRB2 p.Glu27Ter (p.E27*) ( ENST00000305988.6 )
ADRB2 p.Thr164Ile (p.T164I) ( ENST00000305988.6 )
Associated Disease
primary congenital glaucoma
Source Database
DisGeNET
Description
These results suggest no evidence of an association between the Arg16Gly, Glu27Gln and Thr164Ile polymorphisms of the B2AR gene and risk of developing primary open angle glaucoma or primary congenital glaucoma.
Pubmed
13680034
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2003
Drugs