FOLR1, folate receptor alpha, 2348

N. diseases: 174; N. variants: 8
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918405
rs121918405
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
CUI: C2751584
Disease:
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		T 0.700 CausalMutation CLINVAR Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment. 20018644 2009
dbSNP: rs121918405
rs121918405
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
CUI: C2751584
Disease:
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		T 0.700 CausalMutation CLINVAR Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. 19732866 2009
dbSNP: rs121918406
rs121918406
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
CUI: C2751584
Disease:
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs144637717
rs144637717
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
CUI: C2751584
Disease:
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555069069
rs1555069069
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
CUI: C2751584
Disease:
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		A 0.700 CausalMutation CLINVAR