Annotation Detail

Information
Associated Genes
SHMT1
Associated Variants
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
Associated Disease
colorectal carcinoma
Source Database
DisGeNET
Description
Otherwise, SHMT1 C1420T polymorphism may have a protective effect on colorectal cancer and Asian population.
Pubmed
25194438
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Year of publication
2014
Drugs