Annotation Detail

Information
Associated Genes
STXBP4
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 )
LSP1 c.*13+200T>C ( ENST00000381775.5, ENST00000311604.8, ENST00000612798.4, ENST00000405957.6, ENST00000406638.6 )
rs3803662
STXBP4 c.-156-6504G>A ( ENST00000376352.6, ENST00000398391.6, ENST00000434978.6, ENST00000405898.5 )
rs13387042
SLC4A7 c.*2242G>A ( ENST00000295736.9, ENST00000428386.5, ENST00000454389.6 )
rs10941679
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 )
LSP1 c.*13+200T>C ( ENST00000311604.8, ENST00000381775.5, ENST00000405957.6, ENST00000406638.6, ENST00000612798.4 )
rs3803662
STXBP4 c.-156-6504G>A ( ENST00000376352.6, ENST00000398391.6, ENST00000405898.5, ENST00000434978.6 )
rs13387042
SLC4A7 c.*2242G>A ( ENST00000295736.9, ENST00000428386.5, ENST00000454389.6 )
rs10941679
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer.
Pubmed
23893088
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.127643979679967
Year of publication
2013
Drugs