Annotation Detail

Information
Associated Genes
SQSTM1
Associated Variants
TGFB1 c.517-740G>T ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
RUNX3 c.59-8315G>C ( ENST00000338888.4, ENST00000399916.5 )
TGFB1 c.517-740G>T ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
RUNX3 c.59-8315G>C ( ENST00000338888.4, ENST00000399916.5 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
After adjustment for multiple comparisons, two SNPs were significantly associated with breast cancer risk: RUNX3 (rs906296 ORCG/GG = 1.15 95 % CI 1.04-1.26) and TGF-β1 (rs4803455 ORCA/AA = 0.89 95 % CI 0.81-0.98).
Pubmed
24036662
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00162865123248182
Year of publication
2013
Drugs