Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205157
rs786205157
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
0.800 GeneticVariation UNIPROT

dbSNP: rs143370729
rs143370729
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
0.700 GeneticVariation UNIPROT

dbSNP: rs369774476
rs369774476
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
0.700 GeneticVariation UNIPROT Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. 28493438

2017

dbSNP: rs369774476
rs369774476
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
0.700 GeneticVariation UNIPROT Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. 25817015

2015