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
Acute lymphocytic leukemia
Source Database
DisGeNET
Description
This study evaluated the effect of the G80A polymorphism in the RFC1 gene on survival and risk of relapse of acute lymphoblastic leukemia.
Pubmed
22914600
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00271441872080303
Year of publication
2012
Drugs