Annotation Detail

Information
Associated Genes
TGFB1
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
0.00108576748832121
Year of publication
2015
Drugs