rs587777331
|
Entrez Id: |
5859 |
Gene Symbol: |
QARS1 |
QARS1
|
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 |
rs587777332
|
QARS1;MIR6890
|
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 |
rs587777333
|
Entrez Id: |
5859 |
Gene Symbol: |
QARS1 |
QARS1
|
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 |
rs587777334
|
QARS1;MIR6890
|
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 |
rs587777331
|
Entrez Id: |
5859 |
Gene Symbol: |
QARS1 |
QARS1
|
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 |
rs587777332
|
QARS1;MIR6890
|
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 |
rs587777333
|
Entrez Id: |
5859 |
Gene Symbol: |
QARS1 |
QARS1
|
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 |
rs587777334
|
QARS1;MIR6890
|
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 |
rs587777331
|
Entrez Id: |
5859 |
Gene Symbol: |
QARS1 |
QARS1
|
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs587777332
|
QARS1;MIR6890
|
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs587777333
|
Entrez Id: |
5859 |
Gene Symbol: |
QARS1 |
QARS1
|
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs587777334
|
QARS1;MIR6890
|
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs4521268
|
QARS1;MIR6890
|
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 |
rs755674457
|
QARS1;MIR6890
|
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 |
rs1024765171
|
Entrez Id: |
5859 |
Gene Symbol: |
QARS1 |
QARS1
|
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1172486173
|
QARS1;MIR6890
|
Hypoplastic feet
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1172486173
|
QARS1;MIR6890
|
Impaired use of nonverbal behaviors
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1172486173
|
QARS1;MIR6890
|
Cortical visual impairment
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1172486173
|
QARS1;MIR6890
|
Strabismus
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1172486173
|
QARS1;MIR6890
|
Profound global developmental delay
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1172486173
|
QARS1;MIR6890
|
Sleeplessness
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1172486173
|
QARS1;MIR6890
|
Seizures
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1172486173
|
QARS1;MIR6890
|
Microcephaly (physical finding)
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1172486173
|
QARS1;MIR6890
|
Small hand
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1172486173
|
QARS1;MIR6890
|
Hypoplasia of corpus callosum
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|