QARS1, glutaminyl-tRNA synthetase 1, 5859

N. diseases: 41; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775652214
rs775652214
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		C 0.700 CausalMutation CLINVAR
dbSNP: rs767667312
rs767667312
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs755674457
rs755674457
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		A 0.700 CausalMutation CLINVAR Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities. 25432320 2015
dbSNP: rs587777334
rs587777334
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.800 GeneticVariation UNIPROT Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. 24656866 2014
dbSNP: rs587777334
rs587777334
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.800 GeneticVariation UNIPROT The crystal structure of human GlnRS provides basis for the development of neurological disorders. 26869582 2016
dbSNP: rs587777334
rs587777334
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777333
rs587777333
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.800 GeneticVariation UNIPROT The crystal structure of human GlnRS provides basis for the development of neurological disorders. 26869582 2016
dbSNP: rs587777333
rs587777333
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.800 GeneticVariation UNIPROT Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. 24656866 2014
dbSNP: rs587777333
rs587777333
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		G 0.800 CausalMutation CLINVAR
dbSNP: rs587777333
rs587777333
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
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
dbSNP: rs587777333
rs587777333
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
CUI: C0036572
Disease:
Seizures 		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
dbSNP: rs587777332
rs587777332
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.800 GeneticVariation UNIPROT The crystal structure of human GlnRS provides basis for the development of neurological disorders. 26869582 2016
dbSNP: rs587777332
rs587777332
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.800 GeneticVariation UNIPROT Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. 24656866 2014
dbSNP: rs587777332
rs587777332
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777331
rs587777331
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.800 GeneticVariation UNIPROT The crystal structure of human GlnRS provides basis for the development of neurological disorders. 26869582 2016
dbSNP: rs587777331
rs587777331
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.800 GeneticVariation UNIPROT Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. 24656866 2014
dbSNP: rs587777331
rs587777331
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs4521268
rs4521268
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C0424621
Disease:
Body Fat Distribution 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. 30664634 2019
dbSNP: rs185476065
rs185476065
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C4551563
Disease:
Microcephaly (physical finding) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs185476065
rs185476065
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C0036572
Disease:
Seizures 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs185476065
rs185476065
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C0575802
Disease:
Small hand 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs185476065
rs185476065
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C1848673
Disease:
Hypoplastic feet 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs185476065
rs185476065
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C3553450
Disease:
Profound global developmental delay 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs185476065
rs185476065
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C0917801
Disease:
Sleeplessness 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs185476065
rs185476065
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C0008519
Disease:
Ectopic Tissue 		A 0.700 GeneticVariation CLINVAR