Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
TGFB1 MUTATION
TGFB1 MUTATION
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 )
rs3803662
STXBP4 c.-156-6504G>A ( ENST00000376352.6, ENST00000398391.6, ENST00000434978.6, ENST00000405898.5 )
FLACC1 p.Thr397= (p.T397=) ( ENST00000696069.1, ENST00000286190.9, ENST00000392257.8, ENST00000405148.6, ENST00000439709.5 )
rs13387042
SLC4A7 c.*2242G>A ( ENST00000295736.9, ENST00000428386.5, ENST00000454389.6 )
rs10941679
rs889312
rs13281615 ( ENST00000645438.1 )
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 )
rs3803662
STXBP4 c.-156-6504G>A ( ENST00000376352.6, ENST00000398391.6, ENST00000405898.5, ENST00000434978.6 )
FLACC1 p.Thr397= (p.T397=) ( ENST00000696069.1, ENST00000286190.9, ENST00000392257.8, ENST00000405148.6, ENST00000439709.5 )
rs13387042
SLC4A7 c.*2242G>A ( ENST00000295736.9, ENST00000428386.5, ENST00000454389.6 )
rs10941679
rs889312
rs13281615 ( ENST00000645438.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients.
- Pubmed
- 22532573
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0187294891735409
- Year of publication
- 2012
Drugs