Annotation Detail

Information
Associated Genes
BUD13
Associated Variants
BUD13 c.237+1741T>C ( ENST00000260210.5, ENST00000375445.7 )
BUD13 c.237+1741T>A ( ENST00000375445.7, ENST00000260210.5 )
BUD13 c.237+1741T>C ( ENST00000260210.5, ENST00000375445.7 )
BUD13 c.237+1741T>A ( ENST00000260210.5, ENST00000375445.7 )
Associated Disease
Hypercholesterolemia
Source Database
DisGeNET
Description
On single locus analysis, only BUD13 rs10790162 was associated with HCH (OR: 2.23, 95% CI: 1.05, 4.75, P = 0.015).
Pubmed
24780069
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs