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
thrombophilia
Source Database
DisGeNET
Description
Factor V Leiden (R507Q) and factor II (prothrombin) mutation (G20210A) are the two most common inherited hypercoagulability disorders among populations of European origin.
Pubmed
23330508
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.120193260111213
Year of publication
2012
Drugs