Annotation Detail

Information
Associated Genes
FGFR2
Associated Variants
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 )
RBFOX2 c.238-25306C>A ( ENST00000262829.11, ENST00000359369.8, ENST00000405409.6, ENST00000414461.6, ENST00000416721.6, ENST00000438146.7, ENST00000449924.6, ENST00000695803.1, ENST00000695804.1, ENST00000695854.1 )
FGF1 c.-34-747C>T ( ENST00000337706.7, ENST00000359370.10, ENST00000360966.9, ENST00000378046.5, ENST00000407758.5, ENST00000419524.6, ENST00000610990.4, ENST00000612258.4, ENST00000619447.4, ENST00000621536.4 )
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 )
RBFOX2 c.238-25306C>A ( ENST00000262829.11, ENST00000359369.8, ENST00000405409.6, ENST00000414461.6, ENST00000416721.6, ENST00000438146.7, ENST00000449924.6, ENST00000695803.1, ENST00000695804.1, ENST00000695854.1 )
FGF1 c.-34-747C>T ( ENST00000337706.7, ENST00000359370.10, ENST00000360966.9, ENST00000378046.5, ENST00000407758.5, ENST00000419524.6, ENST00000610990.4, ENST00000612258.4, ENST00000619447.4, ENST00000621536.4 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast cancer risk and suggest a greater association of FGF1 rs250108 and RBFOX2 rs2051579 with ER-negative compared to ER-positive breast cancer.
Pubmed
23143756
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0306729315450743
Year of publication
2012
Drugs