Annotation Detail

Information
Associated Genes
ABCC2
Associated Variants
ABCC2 p.Val417Ile (p.V417I) ( ENST00000647814.1 )
ABCC2 p.Ile1324Met (p.I1324M) ( ENST00000647814.1 )
ABCC2 p.Ile1324= (p.I1324=) ( ENST00000647814.1 )
ABCC2 p.Val417Ile (p.V417I) ( ENST00000647814.1 )
ABCC2 p.Ile1324Met (p.I1324M) ( ENST00000647814.1 )
ABCC2 p.Ile1324= (p.I1324=) ( ENST00000647814.1 )
Associated Disease
epilepsy
Source Database
DisGeNET
Description
ABCC2 rs2273697 and rs3740066 polymorphisms and resistance to antiepileptic drugs in Asia Pacific epilepsy cohorts.
Pubmed
24624913
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00934857578256922
Year of publication
2015
Drugs