Annotation Detail

Information
Associated Genes
PON1
Associated Variants
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
Associated Disease
spina bifida
Source Database
DisGeNET
Description
[Paraoxonase 1 polymorphisms and haplotypes and the risk for having offspring affected with spina bifida in Southeast Mexico.]
Pubmed
21031563
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.122638473850682
Year of publication
2010
Drugs