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 )
rs662799
APOA5 p.Ser19Leu (p.S19L) ( ENST00000227665.9, ENST00000542499.5, ENST00000673688.1 )
APOA5 p.Ser19Trp (p.S19W) ( ENST00000227665.9, ENST00000542499.5, ENST00000673688.1 )
rs662799
Associated Disease
Cerebrovascular accident
Source Database
DisGeNET
Description
This pool of samples was previously investigated for haplotype tagging minor alleles of apolipoprotein A5 gene (T-1131C, T1259C, IVS3+G476A and C56G), and an association was found between the minor allele carriage and the triglyceride levels, and also these variants were found to confer risk to the development of stroke.
Pubmed
20158509
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00935850730423336
Year of publication
2010
Drugs