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
breast carcinoma
Source Database
DisGeNET
Description
However, we found evidence for association of SHMT1 C1420T polymorphism with significantly reduced risk of breast cancer in Asians.
Pubmed
24789272
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Year of publication
2014
Drugs