Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201431517
rs201431517
MTFMT
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs201431517
rs201431517
MTFMT
A 0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011
dbSNP: rs121918405
rs121918405
FOLR1
T 0.700 CausalMutation CLINVAR Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment. 20018644

2009
dbSNP: rs121918405
rs121918405
FOLR1
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
FOLR1
A 0.700 CausalMutation CLINVAR

dbSNP: rs144637717
rs144637717
FOLR1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555069069
rs1555069069
FOLR1
A 0.700 CausalMutation CLINVAR