Annotation Detail
Information
- Associated Genes
- FGFR2
- Associated Variants
-
FGFR2 MUTATION
FGFR2 MUTATION
FGFR2 c.110-9239C>T ( ENST00000684153.1, ENST00000356226.8, ENST00000457416.7, ENST00000346997.6, ENST00000369061.8, ENST00000683035.1, ENST00000683211.1, ENST00000357555.9, ENST00000351936.11, ENST00000369060.8, ENST00000358487.10, ENST00000369059.5, ENST00000360144.7, ENST00000369056.5, ENST00000359354.6, ENST00000611527.1, ENST00000682550.1, ENST00000613048.4 )
rs3803662
rs4784227
rs1092913
rs7716600
rs16886165
rs889312
NC_000006.12:g.151627231G>A
rs1562430 ( ENST00000645438.1 )
FGFR2 c.110-9239C>T ( 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 )
rs3803662
rs4784227
rs1092913
rs7716600
rs16886165
rs889312
NC_000006.12:g.151627231G>A
rs1562430 ( ENST00000645438.1 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05).
- Pubmed
- 22452962
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.229599312455182
- Year of publication
- 2012
Drugs