Annotation Detail
Information
- Associated Genes
- CETP
- Associated Variants
-
CETP p.Ala390Pro (p.A390P)
(
ENST00000200676.8,
ENST00000379780.6,
ENST00000566128.1 )
LDLR c.2312-136A>G ( ENST00000252444.10, ENST00000455727.6, ENST00000535915.5, ENST00000545707.5, ENST00000557933.5, ENST00000558013.5, ENST00000558518.6, ENST00000560467.2 )
APOB p.Glu4181Ter (p.E4181*) ( ENST00000233242.5 )
APOB p.Glu4181Lys (p.E4181K) ( ENST00000233242.5 )
APOB c.11903+50G>C ( ENST00000233242.5 )
CETP p.Ala390Pro (p.A390P) ( ENST00000200676.8, ENST00000379780.6, ENST00000566128.1 )
LDLR c.2312-136A>G ( ENST00000252444.10, ENST00000455727.6, ENST00000535915.5, ENST00000545707.5, ENST00000557933.5, ENST00000558013.5, ENST00000558518.6, ENST00000560467.2 )
APOB p.Glu4181Ter (p.E4181*) ( ENST00000233242.5 )
APOB p.Glu4181Lys (p.E4181K) ( ENST00000233242.5 )
APOB c.11903+50G>C ( ENST00000233242.5 ) - Associated Disease
- coronary artery disease
- Source Database
- DisGeNET
- Description
- Two SNPs in the Apolipoprotein B (Apo B) gene [rs1042031 and rs1800479], one in the Cholesterol Ester Transfer Protein (CETP) gene [rs5880], and one in the Low Density Lipoprotein Receptor (LDLR) gene [rs2569538] met the 0.01 significance level for association with CAD.
- Pubmed
- 25134189
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0856411950569457
- Year of publication
- 2014
Drugs