Annotation Detail

Information
Associated Genes
LDLR
Associated Variants
LDLR p.Cys27Trp (p.C27W) ( ENST00000252444.10, ENST00000455727.6, ENST00000535915.5, ENST00000545707.5, ENST00000557933.5, ENST00000558013.5, ENST00000558518.6, ENST00000560467.2 )
LDLR p.Cys27= (p.C27=) ( ENST00000252444.10, ENST00000455727.6, ENST00000535915.5, ENST00000545707.5, ENST00000557933.5, ENST00000558013.5, ENST00000558518.6, ENST00000560467.2 )
LDLR p.Cys27Trp (p.C27W) ( ENST00000252444.10, ENST00000455727.6, ENST00000535915.5, ENST00000545707.5, ENST00000557933.5, ENST00000558013.5, ENST00000558518.6, ENST00000560467.2 )
LDLR p.Cys27= (p.C27=) ( ENST00000252444.10, ENST00000455727.6, ENST00000535915.5, ENST00000545707.5, ENST00000557933.5, ENST00000558013.5, ENST00000558518.6, ENST00000560467.2 )
Associated Disease
Coronary heart disease
Source Database
DisGeNET
Description
Meta-analysis of low density lipoprotein receptor (LDLR) rs2228671 polymorphism and coronary heart disease.
Pubmed
24900971
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.166567244954215
Year of publication
2014
Drugs