Annotation Detail

Information
Associated Genes
SMAD7
Associated Variants
SMAD7 c.743-5183A>G ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
SLC22A3 c.975+8374G>T ( ENST00000275300.3 )
rs6983267 ( ENST00000645438.1 )
SMAD7 c.743-5183A>G ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
SLC22A3 c.975+8374G>T ( ENST00000275300.3 )
rs6983267 ( ENST00000645438.1 )
Associated Disease
colorectal cancer
Source Database
DisGeNET
Description
Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 in SMAD7) and one environmental factor (alcohol drinking) which appear to increase CRC risk approximately twofold.
Pubmed
21242260
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.162367471351159
Year of publication
2011
Drugs