Annotation Detail

Information
Associated Genes
SORT1
Associated Variants
rs662799
LDLR c.*666T>C ( ENST00000252444.10, ENST00000558518.6, ENST00000560467.2 )
APOE p.Arg176Cys (p.R176C) ( ENST00000252486.9 )
CELSR2 c.8055-10A>G ( ENST00000271332.4 )
rs662799
LDLR c.*666T>C ( ENST00000252444.10, ENST00000558518.6, ENST00000560467.2 )
APOE p.Arg176Cys (p.R176C) ( ENST00000252486.9 )
CELSR2 c.8055-10A>G ( ENST00000271332.4 )
Associated Disease
coronary artery disease
Source Database
DisGeNET
Description
CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7 × 10(-8)), APOA5 rs662799 (p=0.0014), LDLR rs1433099 (p=2.1 × 10(-7)), and APOE rs7412 (p=6.1 × 10(-13)).
Pubmed
23050023
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.124810008827325
Year of publication
2012
Drugs