Annotation Detail

Information
Associated Genes
ESR2
Associated Variants
ESR2 p.Val328= (p.V328=) ( ENST00000556275.5, ENST00000553796.5, ENST00000353772.7, ENST00000341099.6, ENST00000554572.5, ENST00000555278.5, ENST00000557772.5, ENST00000358599.9, ENST00000267525.10 )
ESR2 p.Val328= (p.V328=) ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 )
Associated Disease
atherosclerosis
Source Database
DisGeNET
Description
In a Finnish population, the ESR2 rs1256049 polymorphism A allele is associated with preclinical atherosclerosis in young adulthood.
Pubmed
18939943
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00881562356007275
Year of publication
2008
Drugs