Annotation Detail

Information
Associated Genes
AGTR1
Associated Variants
TGFB1 c.-1347T>C ( ENST00000539627.5, ENST00000604123.5 )
AGTR1 c.-47-15508C>T ( ENST00000349243.8, ENST00000404754.2, ENST00000418473.7, ENST00000497524.5 )
TGFB1 c.-1347T>C ( ENST00000539627.5, ENST00000604123.5 )
AGTR1 c.-47-15508C>T ( ENST00000349243.8, ENST00000404754.2, ENST00000418473.7, ENST00000497524.5 )
Associated Disease
aortic aneurysm
Source Database
DisGeNET
Description
In this study of the Chinese population, homozygosity of TGFB1 rs1800469-T and AGTR1 rs12695895-T might be associated with increased risk of AAA.
Pubmed
26027897
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2015
Drugs