Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751459058
rs751459058
FARS2
T 0.700 GeneticVariation CLINVAR New insights into the phenotype of FARS2 deficiency. 29126765

2017
dbSNP: rs397514610
rs397514610
FARS2
G 0.800 CausalMutation CLINVAR FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. 30177229

2018