Annotation Detail

Information
Associated Genes
SLU7
Associated Variants
SMARCA4 c.4425-5330G>T ( ENST00000344626.10, ENST00000429416.8, ENST00000444061.8, ENST00000541122.6, ENST00000589677.5, ENST00000590574.6, ENST00000642628.1, ENST00000642726.1, ENST00000643296.1, ENST00000643549.1, ENST00000644737.1, ENST00000645460.1, ENST00000646484.1, ENST00000646510.1, ENST00000646693.2, ENST00000647230.1, ENST00000711079.1 )
SMARCA4 c.4425-5330G>T ( ENST00000344626.10, ENST00000429416.8, ENST00000444061.8, ENST00000541122.6, ENST00000589677.5, ENST00000590574.6, ENST00000642628.1, ENST00000642726.1, ENST00000643296.1, ENST00000643549.1, ENST00000644737.1, ENST00000645460.1, ENST00000646484.1, ENST00000646510.1, ENST00000646693.2, ENST00000647230.1, ENST00000711079.1 )
Associated Disease
Ischemic stroke
Source Database
DisGeNET
Description
This is the first study that demonstrates that rs1122608 confers protection against ischemic stroke and implicates splicing factor SFSR3 in the disease process.
Pubmed
24190014
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2013
Drugs