QARS1, glutaminyl-tRNA synthetase 1, 5859

N. diseases: 41; N. variants: 14
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY ×
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: 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: 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: rs767667312
rs767667312 		1.000 3 49099391 stop gained G/A snv 8.0E-06 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: rs775652214
rs775652214 		1.000 3 49099971 frameshift variant CT/- del 5.2E-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 		0.700 0