Annotation Detail

Information
Associated Genes
NOTCH2
Associated Variants
rs11071657
NOTCH2 c.875-5592C>A ( ENST00000256646.7 )
GCKR c.1423-418T>C ( ENST00000264717.7 )
rs11071657
NOTCH2 c.875-5592C>A ( ENST00000256646.7 )
GCKR c.1423-418T>C ( ENST00000264717.7 )
Associated Disease
Cardiovascular Diseases
Source Database
DisGeNET
Description
GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-1.135, P = 0.0385) and NOTCH2 rs10923931 (1.104 (1.001 ; 1.217 , P = 0.0481) were found associated with CVD without meeting the corrected threshold.
Pubmed
23185617
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2012
Drugs