Annotation Detail

Information
Associated Genes
FTO
Associated Variants
FTO c.46-30685T>G ( ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1, ENST00000471389.6 )
rs12710696
EBF1 c.778+6101G>A ( ENST00000313708.11, ENST00000380654.8, ENST00000517373.1 )
CCDC170 c.1294-129G>A ( ENST00000239374.8 )
FTO c.46-30685T>G ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
rs12710696
EBF1 c.778+6101G>A ( ENST00000313708.11, ENST00000380654.8, ENST00000517373.1 )
CCDC170 c.1294-129G>A ( ENST00000239374.8 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively.
Pubmed
25862352
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00190009310456212
Year of publication
2015
Drugs