Annotation Detail
Information
- Associated Genes
- F7
- 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
- Myocardial Ischemia
- Source Database
- DisGeNET
- Description
- The R353Q genotype is a major determinant of factor VII coagulant (FVIIc) activity, which is associated with an increased risk of ischemic heart disease (IHD) and elevated plasma triacylglycerol concentrations.
- Pubmed
- 9989683
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0224650001658602
- Year of publication
- 1999
Drugs