Annotation Detail

Information
Associated Genes
SMAD7
Associated Variants
SMAD7 c.743-5649G>A ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
SMAD7 c.743-5649G>A ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
Associated Disease
colorectal cancer
Source Database
DisGeNET
Description
Recently we have demonstrated variation in SMAD7, defined by the single nucleotide polymorphism rs12953717, to be strongly associated with risk of colorectal cancer.
Pubmed
18231913
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.162367471351159
Year of publication
2008
Drugs