Annotation Detail
Information
- Associated Genes
- ALOX5AP
- Associated Variants
-
ALOX5AP MUTATION
ALOX5AP MUTATION
ALOX5 p.Thr90= (p.T90=) ( ENST00000374391.7, ENST00000542434.5 )
ALOX5AP c.117-1359T>G ( ENST00000617770.4 )
ALOX12 p.Asn322Ser (p.N322S) ( ENST00000251535.11 )
PTGS2 c.*427T>C ( ENST00000680451.1, ENST00000367468.10 )
PTGIS p.Leu256= (p.L256=) ( ENST00000244043.5 )
PTGIS p.Leu256= (p.L256=) ( ENST00000244043.5 )
PTGIS p.Leu256= (p.L256=) ( ENST00000244043.5 )
PTGS1 p.Gln41= (p.Q41=) ( ENST00000223423.8, ENST00000362012.7, ENST00000373698.7, ENST00000540753.6, ENST00000619306.5 )
rs7872802
ALOX5 p.Thr90= (p.T90=) ( ENST00000374391.7, ENST00000542434.5 )
ALOX5AP c.117-1359T>G ( ENST00000617770.4 )
ALOX12 p.Asn322Ser (p.N322S) ( ENST00000251535.11 )
PTGS2 c.*427T>C ( ENST00000367468.10, ENST00000680451.1 )
PTGIS p.Leu256= (p.L256=) ( ENST00000244043.5 )
PTGIS p.Leu256= (p.L256=) ( ENST00000244043.5 )
PTGIS p.Leu256= (p.L256=) ( ENST00000244043.5 )
PTGS1 p.Gln41= (p.Q41=) ( ENST00000223423.8, ENST00000362012.7, ENST00000373698.7, ENST00000540753.6, ENST00000619306.5 )
rs7872802 - Associated Disease
- Ischemic stroke
- Source Database
- DisGeNET
- Description
- To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are associated with intracerebral hemorrhage (ICH) and ischemic stroke (IS), seven SNPs in the coding or promoter regions were selected: ALOX12 (rs434473, Asn322Ser), ALOX5 (rs2228064, Thr90Thr), ALOX5AP (rs17222919, -1316T/G), PTGES (rs7872802, -404A/G), PTGIS (rs5628, Leu256Leu), PTGS1 (rs3842788, Gln41Gln) and PTGS2 (rs5275, 3'UTR).
- Pubmed
- 21816595
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00907713391048891
- Year of publication
- 2011
Drugs