Annotation Detail

Information
Associated Genes
APOA5
Associated Variants
APOA5 p.Ser19Leu (p.S19L) ( ENST00000673688.1, ENST00000227665.9, ENST00000542499.5 )
APOA5 p.Ser19Trp (p.S19W) ( ENST00000542499.5, ENST00000227665.9, ENST00000673688.1 )
APOA5 p.Ser19Leu (p.S19L) ( ENST00000227665.9, ENST00000542499.5, ENST00000673688.1 )
APOA5 p.Ser19Trp (p.S19W) ( ENST00000227665.9, ENST00000542499.5, ENST00000673688.1 )
Associated Disease
Hyperlipoproteinemia Type I
Source Database
DisGeNET
Description
Association of APOA5 -1131T>C and S19W gene polymorphisms with both mild hypertriglyceridemia and hyperchylomicronemia in type 2 diabetic patients.
Pubmed
18468520
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00399568321108385
Year of publication
2008
Drugs