Annotation Detail

Information
Associated Genes
SLC19A1
Associated Variants
SLC19A1 MUTATION
SLC19A1 MUTATION
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
Associated Disease
Squamous cell carcinoma of the head and neck
Source Database
DisGeNET
Description
A80G polymorphism of reduced folate carrier 1 (RFC1) gene and head and neck squamous cell carcinoma etiology in Brazilian population.
Pubmed
20661649
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2011
Drugs