Annotation Detail

Information
Associated Genes
ABCB1
Associated Variants
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
Associated Disease
congenital heart defects
Source Database
DisGeNET
Description
General maternal medication use, folic acid, the MDR1 C3435T polymorphism, and the risk of a child with a congenital heart defect.
Pubmed
21183151
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.120542883744161
Year of publication
2011
Drugs