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
coronary artery disease
Source Database
DisGeNET
Description
Therefore, the present study aimed to elucidate the relationship of four single nucleotide polymorphisms (SNPs) in the Apo11q cluster, namely the -75G>A, +83C>T SNPs in the APOA1 gene, the Sac1 SNP in the APOC3 gene and the S19W variant in the APOA5 gene to plasma lipids and CAD in 190 affected sibling pairs (ASPs) belonging to Asian Indian families with a strong CAD history.
Pubmed
18801202
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.139064401350668
Year of publication
2008
Drugs