Annotation Detail

Information
Associated Genes
TGFB1
Associated Variants
TGFB1 MUTATION
TGFB1 MUTATION
FGFR2 c.109+7033T>C ( ENST00000360144.7, ENST00000351936.11, ENST00000369060.8, ENST00000358487.10, ENST00000369059.5, ENST00000369056.5, ENST00000359354.6, ENST00000682550.1, ENST00000611527.1, ENST00000613048.4, ENST00000457416.7, ENST00000684153.1, ENST00000356226.8, ENST00000346997.6, ENST00000369061.8, ENST00000683211.1, ENST00000357555.9, ENST00000683035.1 )
FGFR2 c.109+7033T>C ( ENST00000346997.6, ENST00000351936.11, ENST00000356226.8, ENST00000357555.9, ENST00000358487.10, ENST00000359354.6, ENST00000360144.7, ENST00000369056.5, ENST00000369059.5, ENST00000369060.8, ENST00000369061.8, ENST00000457416.7, ENST00000611527.1, ENST00000613048.4, ENST00000682550.1, ENST00000683035.1, ENST00000683211.1, ENST00000684153.1 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and FGFR2 rs1219648 G allele in North China.
Pubmed
20640597
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0187294891735409
Year of publication
2011
Drugs