Annotation Detail
Information
- Associated Genes
- FTO
- Associated Variants
-
FGFR2 c.109+7033T>C
(
ENST00000360144.7,
ENST00000351936.11,
ENST00000369060.8,
ENST00000358487.10,
ENST00000369059.5,
ENST00000369056.5,
ENST00000359354.6,
ENST00000682550.1,
ENST00000611527.1,
ENST00000613048.4,
ENST00000457416.7,
ENST00000684153.1,
ENST00000356226.8,
ENST00000346997.6,
ENST00000369061.8,
ENST00000683211.1,
ENST00000357555.9,
ENST00000683035.1 )
RAD51B c.1037-43041C>T ( ENST00000487270.5, ENST00000488612.5, ENST00000487861.5 )
FTO c.46-30685T>G ( ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1, ENST00000471389.6 )
CDYL2 c.1007+3855T>C ( ENST00000562812.5, ENST00000566173.3, ENST00000570137.7, ENST00000563890.5 )
BABAM1 p.Lys279= (p.K279=), ENSG00000269307 c.*400+1986G>A ( ENST00000359435.8, ENST00000447614.6, ENST00000595632.5, ENST00000598188.6, ENST00000601043.5 )
rs13387042
TERT c.1951-205G>A ( ENST00000310581.10, ENST00000334602.10 )
FGFR2 c.109+7033T>C ( 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, ENST00000683211.1, ENST00000684153.1 )
RAD51B c.1037-43041C>T ( ENST00000487270.5, ENST00000487861.5, ENST00000488612.5 )
FTO c.46-30685T>G ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
CDYL2 c.1007+3855T>C ( ENST00000562812.5, ENST00000563890.5, ENST00000566173.3, ENST00000570137.7 )
BABAM1 p.Lys279= (p.K279=), ENSG00000269307 c.*400+1986G>A ( ENST00000359435.8, ENST00000447614.6, ENST00000595632.5, ENST00000598188.6, ENST00000601043.5 )
rs13387042
TERT c.1951-205G>A ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2).
- Pubmed
- 23593120
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.121900093104562
- Year of publication
- 2013
Drugs