Annotation Detail
Information
- Associated Genes
- COL1A1
- Associated Variants
-
FGFR2 c.110-7359G>A
(
ENST00000369061.8,
ENST00000346997.6,
ENST00000357555.9,
ENST00000683211.1,
ENST00000683035.1,
ENST00000457416.7,
ENST00000684153.1,
ENST00000356226.8,
ENST00000359354.6,
ENST00000682550.1,
ENST00000611527.1,
ENST00000613048.4,
ENST00000360144.7,
ENST00000351936.11,
ENST00000358487.10,
ENST00000369060.8,
ENST00000369059.5,
ENST00000369056.5 )
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 )
RAD51B c.1037-43041C>T ( ENST00000487270.5, ENST00000488612.5, ENST00000487861.5 )
rs3803662
COL1A1 c.804+80A>C ( ENST00000225964.10 )
STXBP4 c.-156-6504G>A ( ENST00000376352.6, ENST00000398391.6, ENST00000434978.6, ENST00000405898.5 )
rs11249433
CASP8 p.Asp344His (p.D344H) ( ENST00000264275.9, ENST00000323492.11, ENST00000358485.8, ENST00000392263.6, ENST00000413726.6, ENST00000432109.6, ENST00000440732.6, ENST00000444430.3, ENST00000450491.6, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 )
rs13387042
SLC4A7 c.*2242G>A ( ENST00000295736.9, ENST00000428386.5, ENST00000454389.6 )
rs4415084
rs10941679
rs889312
rs2180341 ( ENST00000608991.5 )
NC_000006.12:g.151627231G>A
rs13281615 ( ENST00000645438.1 )
FGFR2 c.110-7359G>A ( 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 )
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 )
RAD51B c.1037-43041C>T ( ENST00000487270.5, ENST00000487861.5, ENST00000488612.5 )
rs3803662
COL1A1 c.804+80A>C ( ENST00000225964.10 )
STXBP4 c.-156-6504G>A ( ENST00000376352.6, ENST00000398391.6, ENST00000405898.5, ENST00000434978.6 )
rs11249433
CASP8 p.Asp344His (p.D344H) ( ENST00000264275.9, ENST00000323492.11, ENST00000358485.8, ENST00000392263.6, ENST00000413726.6, ENST00000432109.6, ENST00000440732.6, ENST00000444430.3, ENST00000450491.6, ENST00000673742.1, ENST00000696067.1, ENST00000696069.1, ENST00000696085.1, ENST00000696087.1 )
rs13387042
SLC4A7 c.*2242G>A ( ENST00000295736.9, ENST00000428386.5, ENST00000454389.6 )
rs4415084
rs10941679
rs889312
rs2180341 ( ENST00000608991.5 )
NC_000006.12:g.151627231G>A
rs13281615 ( ENST00000645438.1 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, CASP8-rs1045485, LSP1-rs3817198, COL1A1-rs2075555, COX11-rs6504950, RNF146-rs2180341, 6q25-rs2046210, SLC4A7-rs4973768, NOTCH2-rs11249433, 5p12-rs4415084, 5p12-rs10941679, RAD51L1-rs999737), and odds ratios were estimated by logistic regression to confirm previously reported associations with breast cancer risk.
- Pubmed
- 21791674
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.122909915722763
- Year of publication
- 2011
Drugs