Annotation Detail

Information
Associated Genes
FGFR2
Associated Variants
ATE1 c.975+4331A>G ( ENST00000692329.1, ENST00000687089.1, ENST00000687583.1, ENST00000693411.1, ENST00000685289.1, ENST00000689057.1, ENST00000224652.12, ENST00000685072.1, ENST00000687458.1, ENST00000693276.1, ENST00000540606.7, ENST00000691765.1, ENST00000688057.1, ENST00000691573.1, ENST00000690355.1, ENST00000369040.9, ENST00000692278.1, ENST00000687144.1, ENST00000690773.1, ENST00000687935.1, ENST00000689834.1, ENST00000686907.1, ENST00000689393.1, ENST00000693486.1, ENST00000685007.1, ENST00000691830.1, ENST00000369043.8, ENST00000693655.1, ENST00000689571.1, ENST00000690415.1 )
ATE1 c.975+4331A>G ( ENST00000224652.12, ENST00000369040.9, ENST00000369043.8, ENST00000540606.7, ENST00000685007.1, ENST00000685072.1, ENST00000685289.1, ENST00000686907.1, ENST00000687089.1, ENST00000687144.1, ENST00000687458.1, ENST00000687583.1, ENST00000687935.1, ENST00000688057.1, ENST00000689057.1, ENST00000689393.1, ENST00000689571.1, ENST00000689834.1, ENST00000690355.1, ENST00000690415.1, ENST00000690773.1, ENST00000691573.1, ENST00000691765.1, ENST00000691830.1, ENST00000692278.1, ENST00000692329.1, ENST00000693276.1, ENST00000693411.1, ENST00000693486.1, ENST00000693655.1 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
A variant mapping to 10q26.13, approximately 300 kb telomeric to the established risk locus within the second intron of FGFR2, was also associated with breast cancer risk, although not at genome-wide statistical significance (rs10510102: OR = 1.12, 95% CI = 1.07 to 1.17, P = 1.58 × 10(-6)).
Pubmed
21263130
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0306729315450743
Year of publication
2011
Drugs