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
BeFree
DisGENET score for the Gene Disease association
0.0141784476532223
Year of publication
2008
Drugs