Annotation Detail
Information
- Associated Genes
- F5
- Associated Variants
-
F2 c.*97G>A
(
ENST00000311907.10 )
F5 p.Gln534= (p.Q534=) ( ENST00000367796.3, ENST00000367797.9 )
F2 c.*97G>A ( ENST00000311907.10 )
F5 p.Arg534Gln (p.R534Q) ( ENST00000367796.3, ENST00000367797.9 ) - Associated Disease
- protein S deficiency
- Source Database
- DisGeNET
- Description
- We investigated the prevalence of the factor V Leiden (F5 rs6025) and prothrombin gene G20210A (F2 rs1799963) polymorphisms, and antithrombin, protein C and protein S deficiencies, and their association with intrauterine fetal death.
- Pubmed
- 22198364
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0358291222028415
- Year of publication
- 2011
Drugs