Annotation Detail

Information
Associated Genes
ADRB1
Associated Variants
ADRB1 p.Ser49Gly (p.S49G) ( ENST00000369295.4 )
ADRB1 p.Gly389Arg (p.G389R) ( ENST00000369295.4 )
SLC6A2 c.-182C>T ( ENST00000568943.6, ENST00000219833.13, ENST00000379906.6, ENST00000414754.7 )
ADRB1 p.Ser49Gly (p.S49G) ( ENST00000369295.4 )
ADRB1 p.Gly389Arg (p.G389R) ( ENST00000369295.4 )
SLC6A2 c.-182C>T ( ENST00000219833.13, ENST00000379906.6, ENST00000414754.7, ENST00000568943.6 )
Associated Disease
Cardiomyopathy, Dilated
Source Database
DisGeNET
Description
Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performed in 83 patients with DCM.
Pubmed
22664639
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.226370925810098
Year of publication
2012
Drugs