Annotation Detail
Information
- Associated Genes
- SMARCA4
- 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
- Cerebrovascular accident
- Source Database
- DisGeNET
- Description
- BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factor SFRS3.
- Pubmed
- 24190014
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs