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
[Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population.]
Pubmed
19035720
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.0141784476532223
Year of publication
2008
Drugs