Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773579570
rs773579570
FARSB
0.800 GeneticVariation UNIPROT Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. 30014610

2018
dbSNP: rs773579570
rs773579570
FARSB
0.800 GeneticVariation UNIPROT Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. 29573043

2018
dbSNP: rs773579570
rs773579570
FARSB
0.800 GeneticVariation UNIPROT Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. 29979980

2018
dbSNP: rs773579570
rs773579570
FARSB
T 0.800 CausalMutation CLINVAR