Annotation Detail
Information
- Associated Genes
- MMP3
- Associated Variants
-
MMP12 INSERTION
MMP12 INSERTION
MMP12 INSERTION
MMP12 INSERTION
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- aortic aneurysm
- Source Database
- DisGeNET
- Description
- For SNPs that had previously been associated with AAA presence, meta-analysis of currently available data together with the two study cohorts disclosed positive associations for the MMP-3 rs3025058 (OR, 1.15; 95% CI, 1.06-1.25; P = .0009) and MTHFR rs1801133 (OR, 1.07; 95% CI, 1.02-1.12; P = .0088).
- Pubmed
- 24613192
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2013
Drugs