AARS1, alanyl-tRNA synthetase 1, 16

N. diseases: 84; N. variants: 11
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205157
rs786205157
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C4225361
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205157
rs786205157
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C4225361
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		G 0.800 CausalMutation CLINVAR