Annotation Detail
Information
- Associated Genes
- SREBF2
- Associated Variants
-
SREBF2 p.Gly595Ala (p.G595A)
(
ENST00000361204.9,
ENST00000710853.1 )
SCAP p.Val798Ile (p.V798I) ( ENST00000265565.10, ENST00000648151.1 )
SREBF2 p.Gly595Ala (p.G595A) ( ENST00000361204.9, ENST00000710853.1 )
SCAP p.Val798Ile (p.V798I) ( ENST00000265565.10, ENST00000648151.1 ) - Associated Disease
- myocardial infarction
- Source Database
- DisGeNET
- Description
- SREBF-2 1784G > C single nucleotide polymorphism (SNP, rs2228314) and SCAP 2386A > G variant (rs12487736) are associated with early onset myocardial infarction (MI) and sudden cardiac death in middle-aged men.
- Pubmed
- 20111910
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00326723398662778
- Year of publication
- 2011
Drugs