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: 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: 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: 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: 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: rs1024765171
rs1024765171
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1172486173
rs1172486173
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C1848673
Disease:
Hypoplastic feet
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1172486173
rs1172486173
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C4021798
Disease:
Impaired use of nonverbal behaviors
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1172486173
rs1172486173
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C4048268
Disease:
Cortical visual impairment
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1172486173
rs1172486173
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C0038379
Disease:
Strabismus
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1172486173
rs1172486173
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C3553450
Disease:
Profound global developmental delay
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1172486173
rs1172486173
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C0917801
Disease:
Sleeplessness
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1172486173
rs1172486173
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C0036572
Disease:
Seizures
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1172486173
rs1172486173
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C4551563
Disease:
Microcephaly (physical finding)
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1172486173
rs1172486173
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C0575802
Disease:
Small hand
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1172486173
rs1172486173
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C0344482
Disease:
Hypoplasia of corpus callosum
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1172486173
rs1172486173
Entrez Id: 5859;102465536
Gene Symbol: QARS1;MIR6890
QARS1;MIR6890
CUI: C0008519
Disease:
Ectopic Tissue
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1241706645
rs1241706645
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
G 0.700 CausalMutation CLINVAR
dbSNP: rs1553751717
rs1553751717
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
C 0.700 CausalMutation CLINVAR
dbSNP: rs1559966797
rs1559966797
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
CUI: C4014239
Disease:
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
C 0.700 CausalMutation CLINVAR
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