Annotation Detail

Information
Associated Genes
LSP1
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
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
Associated Disease
Mammographic Density
Source Database
DisGeNET
Description
Evidence of association with MD was found for variant rs3803662 (TOX3) (Odds Ratio (OR)=1.13, 95% Confidence Interval (CI)=1.03-1.25), and marginal evidence of association for susceptibility loci rs3817198 (LSP1) (OR=1.09, 95% CI=1.00-1.20) and rs2981582 (FGFR2) (OR=0.92, 95% CI=0.84-1.01).
Pubmed
23021931
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.120814325616241
Year of publication
2013
Drugs