Annotation Detail
Information
- Associated Genes
- ABCA1
- Associated Variants
-
ABCA1 MUTATION
ABCA1 MUTATION
ABCA1 p.Arg219Lys (p.R219K) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 )
ABCA1 p.Arg219Lys (p.R219K) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 ) - Associated Disease
- Cardiovascular Diseases
- Source Database
- DisGeNET
- Description
- Decreased frequencies of ABCA1 polymorphisms R219K and V771M in Hungarian patients with cerebrovascular and cardiovascular diseases.
- Pubmed
- 16446539
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0107057851429707
- Year of publication
- 2006
Drugs