QARS1, glutaminyl-tRNA synthetase 1, 5859

N. diseases: 41; N. variants: 14
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777331
rs587777331 		1.000 3 49104455 missense variant C/A snv 2.4E-05 2.8E-05
CUI: C4014239
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.800 1.000 2 2014 2016
dbSNP: rs587777332
rs587777332 		1.000 3 49100049 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C4014239
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.800 1.000 2 2014 2016
dbSNP: rs587777333
rs587777333 		0.925 0.120 3 49104420 missense variant A/G snv 4.0E-06
CUI: C4014239
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.800 1.000 2 2014 2016
dbSNP: rs587777334
rs587777334 		1.000 3 49099415 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C4014239
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.800 1.000 2 2014 2016
dbSNP: rs4521268
rs4521268 		3 49100471 intron variant G/T snv 0.74 0.66
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs755674457
rs755674457 		1.000 3 49099762 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C4014239
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.700 1.000 1 2015 2015
dbSNP: rs1024765171
rs1024765171 		1.000 3 49098261 splice region variant G/A;T snv 3.2E-05 3.5E-05
CUI: C4014239
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.700 0
dbSNP: rs1172486173
rs1172486173 		0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1172486173
rs1172486173 		0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1172486173
rs1172486173 		0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1172486173
rs1172486173 		0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1172486173
rs1172486173 		0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		0.700 0
dbSNP: rs1172486173
rs1172486173 		0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors 		Mental Disorders 0.700 0
dbSNP: rs1172486173
rs1172486173 		0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1172486173
rs1172486173 		0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1172486173
rs1172486173 		0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs1172486173
rs1172486173 		0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1172486173
rs1172486173 		0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs1241706645
rs1241706645 		1.000 3 49102251 frameshift variant C/- delins
CUI: C4014239
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.700 0
dbSNP: rs1553751717
rs1553751717 		1.000 3 49099346 frameshift variant G/- delins
CUI: C4014239
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.700 0
dbSNP: rs1559966797
rs1559966797 		1.000 3 49099176 frameshift variant GT/- delins
CUI: C4014239
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY 		0.700 0
dbSNP: rs185476065
rs185476065 		0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs185476065
rs185476065 		0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		0.700 0
dbSNP: rs185476065
rs185476065 		0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors 		Mental Disorders 0.700 0
dbSNP: rs185476065
rs185476065 		0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0