Annotation Detail
Information
- Associated Genes
- IL4R
- Associated Variants
-
IL4R p.Ser503Pro (p.S503P)
(
ENST00000543915.6,
ENST00000395762.7,
ENST00000170630.6 )
IL4R p.Ser503Pro (p.S503P) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 ) - Associated Disease
- Cerebrovascular accident
- Source Database
- DisGeNET
- Description
- The previously observed association with the IL4R 503 S/P variant and the novel association with the LTC4S(-444) A/C variant suggest that these loci may also contribute to large vessel stroke risk in children with SCA.
- Pubmed
- 17600229
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0076439796799667
- Year of publication
- 2007
Drugs