Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M)
(
ENST00000290866.10,
ENST00000428043.5,
ENST00000413513.7,
ENST00000290863.10 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6 )
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M) ( ENST00000290863.10, ENST00000290866.10, ENST00000413513.7, ENST00000428043.5 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- Cardiovascular Diseases
- Source Database
- DisGeNET
- Description
- We tested 140 with MI individuals for factor V (FV) Leiden, FV H1299R, Prothrombin G20210A, factor XIII (FXIII) V34L, β-fibrinogen b-455G/A, plasminogen activator inhibitor-1 (PAI-1)-675 4G/5G, human platelet antigens 1 (HPA-1) a/b, apolipoprotein B (ApoB) R3500Q, apolipoprotein E (ApoE), E2, E3, and E4, angiotensin-converting enzyme (ACE) D/I, 5,10 methylenetetrahydrofolate reductase (MTHFR) 677C/T, and MTHFR 1298A/C polymorphisms using a ViennaLab CVD strip assay.
- Pubmed
- 22752805
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.244595919194483
- Year of publication
- 2012
Drugs