Annotation Detail

Information
Associated Genes
BRCA1
Associated Variants
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+1899A>G ( ENST00000684153.1, ENST00000356226.8, ENST00000457416.7, ENST00000346997.6, ENST00000369061.8, ENST00000683035.1, ENST00000683211.1, ENST00000357555.9, ENST00000351936.11, ENST00000369060.8, ENST00000358487.10, ENST00000369059.5, ENST00000360144.7, ENST00000369056.5, ENST00000359354.6, ENST00000682550.1, ENST00000611527.1, ENST00000613048.4 )
FGFR2 c.109+906T>C ( ENST00000683211.1, ENST00000357555.9, ENST00000683035.1, ENST00000346997.6, ENST00000369061.8, ENST00000457416.7, ENST00000356226.8, ENST00000684153.1, ENST00000611527.1, ENST00000682550.1, ENST00000613048.4, ENST00000359354.6, ENST00000369056.5, ENST00000360144.7, ENST00000369059.5, ENST00000351936.11, ENST00000369060.8, ENST00000358487.10 )
rs889312
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 )
FGFR2 c.109+1899A>G ( 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 )
FGFR2 c.109+906T>C ( ENST00000683211.1, ENST00000684153.1, 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 )
rs889312
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs2420946, and rs1219648; and MAP3K1 rs889312, with BC risk in 351 BRCA1/2-negative Chilean BC cases and 802 controls.
Pubmed
23225170
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.08
Year of publication
2013
Drugs