Annotation Detail
Information
- Associated Genes
- F5
- Associated Variants
-
F7 p.Arg375Gln (p.R375Q)
(
ENST00000375581.3,
ENST00000346342.8,
ENST00000541084.5 )
F7 p.Arg375Gln (p.R375Q) ( ENST00000346342.8, ENST00000375581.3, ENST00000541084.5 ) - Associated Disease
- Factor V Leiden mutation
- Source Database
- DisGeNET
- Description
- Individuals belonging to six different Amerindian tribes and two African groups of Costa Rica were genotyped for factor V Leiden (FV), factor V haplotype HR2 (FV HR2), Factor II 20210G>A (FII), the methylenetetrahydrofolate reductase (MTHFR), factor VII polymorphisms (FVII IVS7, FVII R353Q), factor XIII (FXIII V34L), and the insertion/deletion (I/D) polymorphism of the gene of angiotensin converting enzyme (ACE).
- Pubmed
- 14689519
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.082367031978602
- Year of publication
- 2004
Drugs