Annotation Detail
Information
- Associated Genes
- F5
- Associated Variants
-
MTHFR p.Ala263Val (p.A263V)
(
ENST00000376585.6,
ENST00000376583.7,
ENST00000376590.9,
ENST00000376592.6,
ENST00000423400.7,
ENST00000641407.1,
ENST00000641820.1 )
F5 p.Gln534= (p.Q534=) ( ENST00000367796.3, ENST00000367797.9 )
FGG c.*216C>T
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
F5 p.Arg534Gln (p.R534Q) ( ENST00000367796.3, ENST00000367797.9 )
FGG c.*216C>T - Associated Disease
- Factor V Leiden mutation
- Source Database
- DisGeNET
- Description
- SNP in the following genes demonstrated association with thrombosis risk overall in the discovery or replication cohorts and were assessed using metaanalytic methods: factor V Leiden (FVL) rs6025 (OR 1.85, p = 0.02) and methylenetetrahydrofolate reductase (MTHFR) rs1801133 (OR 0.75, p = 0.04) in whites, and fibrinogen gamma (FGG) rs2066865 (OR 1.91, p = 0.01) in Hispanic Americans.
- Pubmed
- 22707612
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.082367031978602
- Year of publication
- 2012
Drugs