Annotation Detail

Information
Associated Genes
KIF6
Associated Variants
SNX19 p.Leu878Arg (p.L878R) ( ENST00000530356.5, ENST00000534726.5, ENST00000426933.6, ENST00000528555.5, ENST00000265909.9 )
SNX19 p.Leu878Gln (p.L878Q) ( ENST00000528555.5, ENST00000426933.6, ENST00000265909.9, ENST00000530356.5, ENST00000534726.5 )
VAMP8 c.*143T>C ( ENST00000263864.10, ENST00000409760.1, ENST00000432071.1 )
VAMP8 c.*143T>G ( ENST00000263864.10, ENST00000409760.1, ENST00000432071.1 )
MYH15 p.Thr1105Ala (p.T1105A) ( ENST00000273353.5, ENST00000689784.1, ENST00000693548.1 )
PALLD c.1964+44412G>A ( ENST00000261509.10, ENST00000505667.6, ENST00000512127.5 )
KIF6 p.Trp719Arg (p.W719R) ( ENST00000229913.9, ENST00000287152.12, ENST00000394362.5, ENST00000538893.5 )
SNX19 p.Leu878Arg (p.L878R) ( ENST00000265909.9, ENST00000426933.6, ENST00000528555.5, ENST00000530356.5, ENST00000534726.5 )
SNX19 p.Leu878Gln (p.L878Q) ( ENST00000265909.9, ENST00000426933.6, ENST00000528555.5, ENST00000530356.5, ENST00000534726.5 )
VAMP8 c.*143T>C ( ENST00000263864.10, ENST00000409760.1, ENST00000432071.1 )
VAMP8 c.*143T>G ( ENST00000263864.10, ENST00000409760.1, ENST00000432071.1 )
MYH15 p.Thr1105Ala (p.T1105A) ( ENST00000273353.5, ENST00000689784.1, ENST00000693548.1 )
PALLD c.1964+44412G>A ( ENST00000261509.10, ENST00000505667.6, ENST00000512127.5 )
KIF6 p.Trp719Arg (p.W719R) ( ENST00000229913.9, ENST00000287152.12, ENST00000394362.5, ENST00000538893.5 )
Associated Disease
atherosclerosis
Source Database
DisGeNET
Description
We considered five variants that were associated with coronary heart disease in two studies and confirmed in the Atherosclerosis Risk in Communities study: rs20455 (KIF6), rs3900940 (MYH15), rs7439293 (PALLD), rs2298566 (SNX19), and rs1010 (VAMP8).
Pubmed
18073581
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00554838957344497
Year of publication
2007
Drugs