Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
dbSNP: rs397514610
rs397514610
FARS2
0.800 GeneticVariation UNIPROT Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 22833457

2012
dbSNP: rs397514610
rs397514610
FARS2
0.800 GeneticVariation UNIPROT Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341

2012
dbSNP: rs397514610
rs397514610
FARS2
G 0.800 CausalMutation CLINVAR Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341

2012
dbSNP: rs397514611
rs397514611
FARS2
0.800 GeneticVariation UNIPROT Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341

2012
dbSNP: rs397514611
rs397514611
FARS2
C 0.800 GeneticVariation CLINVAR Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 22833457

2012
dbSNP: rs397514611
rs397514611
FARS2
0.800 GeneticVariation UNIPROT Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 22833457

2012
dbSNP: rs397514612
rs397514612
FARS2
0.800 GeneticVariation UNIPROT Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 22833457

2012
dbSNP: rs397514612
rs397514612
FARS2
T 0.800 GeneticVariation CLINVAR Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 22833457

2012
dbSNP: rs397514612
rs397514612
FARS2
0.800 GeneticVariation UNIPROT Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341

2012
dbSNP: rs397514610
rs397514610
FARS2
G 0.800 GeneticVariation CLINVAR

dbSNP: rs397514611
rs397514611
FARS2
C 0.800 CausalMutation CLINVAR

dbSNP: rs397514612
rs397514612
FARS2
T 0.800 CausalMutation CLINVAR

dbSNP: rs746746116
rs746746116
FARS2
A 0.700 GeneticVariation CLINVAR FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy. 28043061

2017
dbSNP: rs751459058
rs751459058
FARS2
T 0.700 GeneticVariation CLINVAR New insights into the phenotype of FARS2 deficiency. 29126765

2017
dbSNP: rs1298860043
rs1298860043
FARS2
A 0.700 GeneticVariation CLINVAR Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 27652284

2016
dbSNP: rs146988468
rs146988468
FARS2
T 0.700 GeneticVariation CLINVAR Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 27652284

2016
dbSNP: rs1554169353
rs1554169353
FARS2
G 0.700 GeneticVariation CLINVAR Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease. 27095821

2016
dbSNP: rs770035560
rs770035560
FARS2
G 0.700 GeneticVariation CLINVAR Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease. 27095821

2016
dbSNP: rs764427452
rs764427452
FARS2
T 0.700 GeneticVariation CLINVAR Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. 24161539

2014
dbSNP: rs1407198979
rs1407198979
FARS2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554169280
rs1554169280
FARS2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1561990337
rs1561990337
FARS2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1561990552
rs1561990552
FARS2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs202060864
rs202060864
FARS2
T 0.700 GeneticVariation CLINVAR