Annotation Detail
Information
- Associated Genes
- MAP3K1
- Associated Variants
-
MAP3K1 MUTATION
MAP3K1 MUTATION
FGFR2 c.110-12117T>C ( ENST00000683211.1, ENST00000357555.9, ENST00000683035.1, ENST00000346997.6, ENST00000369061.8, ENST00000457416.7, ENST00000684153.1, ENST00000356226.8, ENST00000613048.4, ENST00000682550.1, ENST00000611527.1, ENST00000359354.6, ENST00000369056.5, ENST00000360144.7, ENST00000369060.8, ENST00000358487.10, ENST00000351936.11, ENST00000369059.5 )
LGR6 c.213-7375G>A ( ENST00000367278.8, ENST00000255432.11, ENST00000439764.2 )
rs889312
FGFR2 c.110-12117T>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 )
LGR6 c.213-7375G>A ( ENST00000255432.11, ENST00000367278.8, ENST00000439764.2 )
rs889312 - Associated Disease
- Lobular carcinoma in situ of breast
- Source Database
- DisGeNET
- Description
- Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het = 0.04 and rs889312/5q11/MAP3K1, P-het = 0.03); and two showed stronger associations for LCIS than ILC (rs6678914/1q32/LGR6, P-het = 0.001 and rs1752911/6q14, P-het = 0.04).
- Pubmed
- 24743323
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs