Annotation Detail

Information
Associated Genes
SMAD7
Associated Variants
SMAD7 c.743-5183A>G ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
SMAD7 c.743-5649G>A ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
SMAD7 c.742+9819A>G ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
SMAD7 c.743-5183A>G ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
SMAD7 c.743-5649G>A ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
SMAD7 c.742+9819A>G ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
Associated Disease
colorectal cancer
Source Database
DisGeNET
Description
Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs4464148, rs4939827 and rs12953717) that confer modest susceptibility to colorectal cancer.
Pubmed
19357349
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.162367471351159
Year of publication
2009
Drugs