Annotation Detail

Information
Associated Genes
PON1
Associated Variants
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
PON1 p.Leu55Val (p.L55V) ( ENST00000222381.8 )
PON1 p.Leu55= (p.L55=) ( ENST00000222381.8 )
PON1 p.Leu55? (p.L55?) ( ENST00000222381.8 )
PON1 p.Leu55Met (p.L55M) ( ENST00000222381.8 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
PON1 p.Leu55Val (p.L55V) ( ENST00000222381.8 )
PON1 p.Leu55= (p.L55=) ( ENST00000222381.8 )
PON1 p.Leu55? (p.L55?) ( ENST00000222381.8 )
PON1 p.Leu55Met (p.L55M) ( ENST00000222381.8 )
Associated Disease
age related macular degeneration
Source Database
DisGeNET
Description
Association of paraoxonase 1 L55M and Q192R single-nucleotide polymorphisms with age-related macular degeneration.
Pubmed
23538572
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.013463811125492
Year of publication
2014
Drugs