Annotation Detail
Information
- Associated Genes
- TIMP1
- Associated Variants
-
rs1799750
rs1799750
MMP10 p.Arg53Thr (p.R53T) ( ENST00000279441.9 )
MMP10 p.Arg53Lys (p.R53K) ( ENST00000279441.9 )
rs2276109
NC_000011.10:g.102955810C>T
rs3918242
SYN3 c.711+64209A>G ( ENST00000358763.7 )
SYN1 c.775-8085A>G, TIMP1 p.Phe124= (p.F124=) ( ENST00000295987.13, ENST00000340666.5, ENST00000218388.9, ENST00000377017.5, ENST00000456754.6 )
MMP10 p.Arg53Thr (p.R53T) ( ENST00000279441.9 )
MMP10 p.Arg53Lys (p.R53K) ( ENST00000279441.9 )
rs2276109
NC_000011.10:g.102955810C>T
rs3918242
SYN3 c.711+64208A>G ( ENST00000358763.7 )
SYN1 c.775-8085A>G, TIMP1 p.Phe124= (p.F124=) ( ENST00000295987.13, ENST00000340666.5, ENST00000218388.9, ENST00000377017.5, ENST00000456754.6 ) - Associated Disease
- aortic aneurysm
- Source Database
- DisGeNET
- Description
- No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (MMP1), rs3918242 (MMP9), rs486055 (MMP10), rs2276109 (MMP12), rs2252070 (MMP13), rs4898 (TIMP1) or rs9619311 (TIMP3).
- Pubmed
- 23813847
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2014
Drugs