rs587777333, QARS1

N. diseases: 3
Disease: Microcephaly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Microcephaly
CUI: C0025958
Disease: Microcephaly
0.010 GeneticVariation BEFREE Recessive mutations in QARS, including the loss-of-function missense mutation p.Tyr57His, have been reported to cause intractable seizures with progressive microcephaly. 25471517 2015