Annotation Detail

Information
Associated Genes
ABCC8
Associated Variants
ABCC8 p.Ala1391Ser (p.A1391S) ( ENST00000646902.1, ENST00000644772.1, ENST00000302539.9, ENST00000389817.8, ENST00000684571.1, ENST00000643260.1, ENST00000647015.1, ENST00000683136.1, ENST00000642271.1 )
ABCC8 p.Ala1391Thr (p.A1391T) ( ENST00000644772.1, ENST00000646902.1, ENST00000302539.9, ENST00000684571.1, ENST00000389817.8, ENST00000643260.1, ENST00000647015.1, ENST00000683136.1, ENST00000642271.1 )
ABCC8 p.Ala1391Ser (p.A1391S) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Ala1391Thr (p.A1391T) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
Associated Disease
hypoglycemia
Source Database
DisGeNET
Description
ABCC8 polymorphism (Ser1369Ala): influence on severe hypoglycemia due to sulfonylureas.
Pubmed
21142918
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0947972762675036
Year of publication
2010
Drugs