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 previous genome-wide association studies identified three single nucleotide polymorphisms (SNPs) (rs4939827, rs12953717 and rs4464148) in SMAD7 to be associated with colorectal cancer in a Western population.
Pubmed
21221812
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.162367471351159
Year of publication
2011
Drugs