Annotation Detail

Information
Associated Genes
F5
Associated Variants
F5 p.Gln534= (p.Q534=) ( ENST00000367796.3, ENST00000367797.9 )
F5 p.Arg534Gln (p.R534Q) ( ENST00000367796.3, ENST00000367797.9 )
Associated Disease
Deep thrombophlebitis
Source Database
DisGeNET
Description
Women carrying the factor V Leiden (F5 rs6025) polymorphism, or who had reduced sensitivity to activated protein C (aPC) in the absence of F5 rs6025, had increased risk for DVT, with unadjusted ORs 7.7 (95% CI 4.7-12.7) and 3.5 (95% CI 2.2-5.4), respectively.
Pubmed
23015030
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00407162808120455
Year of publication
2012
Drugs