Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR MUTATION
MTHFR MUTATION - Associated Disease
- Vascular Diseases
- Source Database
- DisGeNET
- Description
- The 5,10-methylenetetrahydrofolate reductase ( MTHFR ) gene 677C --> T polymorphism causes an A222V amino acid change which affects MTHFR enzyme activity and can increase homocysteine, a vascular disease risk factor.
- Pubmed
- 15576298
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.155222768153634
- Year of publication
- 2004
Drugs