Annotation Detail
Information
- Associated Genes
- FGFR2
- 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 )
rs2107425
TOX3 c.87+32512T>C ( ENST00000219746.14, ENST00000407228.7 )
rs3803662
rs889312
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 )
rs2107425
TOX3 c.87+32512T>C ( ENST00000219746.14, ENST00000407228.7 )
rs3803662
rs889312 - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- Six of the previously identified SNPs showed a statistically significant association with breast cancer risk: rs2981582 (FGFR2), rs3803662 (TNRC9), rs12443621 (TNRC9), rs889312 (MAP3K1), rs3817198 (LSP1) and rs2107425 (H19).
- Pubmed
- 22867275
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.229599312455182
- Year of publication
- 2012
Drugs