Annotation Detail

Information
Associated Genes
MIR1972-2
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
0.000271441872080303
Year of publication
2015
Drugs