Annotation Detail

Information
Associated Genes
APC
Associated Variants
APC p.Val1822Asp (p.V1822D) ( ENST00000512211.7, ENST00000507379.6, ENST00000508376.6, ENST00000504915.3, ENST00000257430.9, ENST00000509732.6, ENST00000713638.1, ENST00000713639.1 )
APC p.Val1822Asp (p.V1822D) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
Associated Disease
colorectal cancer
Source Database
DisGeNET
Description
The D1822V APC polymorphism interacts with fat, calcium, and fiber intakes in modulating the risk of colorectal cancer in Portuguese persons.
Pubmed
17556698
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.24
Year of publication
2007
Drugs