Variant: rs121918405

present in Gene: FOLR1 present in Chromosome: 11 Position on Chromosome: 72195454 Alleles of this Variant: C/G;T

rs121918405 in FOLR1 gene and Neurodegeneration Due To Cerebral Folate Transport Deficiency PMID 20018644 2009 Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment.

PMID 19732866 2009 Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.