Annotation Detail
Information
- Associated Genes
- COL1A2
- Associated Variants
-
COL1A2 p.Pro549Thr (p.P549T)
(
ENST00000297268.11 )
COL1A2 p.Pro549Ala (p.P549A) ( ENST00000297268.11 )
COL1A2 p.Pro549Ser (p.P549S) ( ENST00000297268.11 )
COL1A2 p.Pro549Thr (p.P549T) ( ENST00000297268.11 )
COL1A2 p.Pro549Ala (p.P549A) ( ENST00000297268.11 )
COL1A2 p.Pro549Ser (p.P549S) ( ENST00000297268.11 ) - Associated Disease
- intracranial aneurysm
- Source Database
- DisGeNET
- Description
- A coding polymorphism (rs42524) in COL1A2 has previously been associated with intracranial aneurysms.
- Pubmed
- 19426706
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0141784476532223
- Year of publication
- 2009
Drugs