Annotation Detail

Information
Associated Genes
KIF2C
Associated Variants
ENSG00000275778 c.-125-12532G>A, TAS2R50 p.Cys203Tyr (p.C203Y) ( ENST00000506868.1, ENST00000703543.1 )
VAMP8 c.*143T>C ( ENST00000263864.10, ENST00000409760.1, ENST00000432071.1 )
VAMP8 c.*143T>G ( ENST00000263864.10, ENST00000409760.1, ENST00000432071.1 )
LPA p.Ile1891Met (p.I1891M) ( ENST00000316300.10 )
KIF6 p.Trp719Arg (p.W719R) ( ENST00000229913.9, ENST00000287152.12, ENST00000394362.5, ENST00000538893.5 )
ENSG00000275778 c.-125-12532G>A, TAS2R50 p.Cys203Tyr (p.C203Y) ( ENST00000506868.1, ENST00000703543.1 )
VAMP8 c.*143T>C ( ENST00000263864.10, ENST00000409760.1, ENST00000432071.1 )
VAMP8 c.*143T>G ( ENST00000263864.10, ENST00000409760.1, ENST00000432071.1 )
LPA p.Ile1891Met (p.I1891M) ( ENST00000316300.10 )
KIF6 p.Trp719Arg (p.W719R) ( ENST00000229913.9, ENST00000287152.12, ENST00000394362.5, ENST00000538893.5 )
Associated Disease
Coronary heart disease
Source Database
DisGeNET
Description
Single nucleotide polymorphisms (SNPs) at the KIF6 (kinesin like protein 6, rs20455 or 719Arg), LPA (lipoprotein(a), rs3798220), TAS2R50 (taste receptor type 2, member 50, rs1376251) and VAMP8 (vesicle-associated membrane protein 8, rs1010) have previously been associated with low density lipoprotein cholesterol (LDL-C) lowering response to statins, coronary heart disease (CHD) at baseline, or CHD events on trial.
Pubmed
22192511
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Year of publication
2012
Drugs