Annotation Detail

Information
Associated Genes
ABCC8
Associated Variants
ABCC8 p.Arg1401Cys (p.R1401C) ( ENST00000647015.1, ENST00000642271.1, ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000643260.1, ENST00000684571.1, ENST00000389817.8, ENST00000683136.1 )
ABCC8 p.Arg1401Ser (p.R1401S) ( ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000643260.1, ENST00000684571.1, ENST00000389817.8, ENST00000683136.1, ENST00000647015.1, ENST00000642271.1 )
ABCC8 p.Leu582Val (p.L582V) ( ENST00000683136.1, ENST00000647015.1, ENST00000642271.1, ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000643260.1, ENST00000684571.1, ENST00000389817.8 )
ABCC8 p.Arg1401Cys (p.R1401C) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Arg1401Ser (p.R1401S) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Leu582Val (p.L582V) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.315472243311533
Year of publication
NA
Drugs