Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777331
rs587777331
QARS1
1 1.000 3 49104455 missense variant C/A snv 2.4E-05 2.8E-05 0.800 1.000 2 2014 2016
dbSNP: rs587777332
rs587777332
QARS1 ; MIR6890
1 1.000 3 49100049 missense variant G/A snv 8.0E-06 7.0E-06 0.800 1.000 2 2014 2016
dbSNP: rs587777333
rs587777333
QARS1
3 0.925 0.120 3 49104420 missense variant A/G snv 4.0E-06 0.800 1.000 2 2014 2016
dbSNP: rs587777334
rs587777334
QARS1 ; MIR6890
1 1.000 3 49099415 missense variant G/A snv 1.2E-05 1.4E-05 0.800 1.000 2 2014 2016
dbSNP: rs755674457
rs755674457
QARS1 ; MIR6890
1 1.000 3 49099762 stop gained G/A snv 1.6E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs1024765171
rs1024765171
QARS1
1 1.000 3 49098261 splice region variant G/A;T snv 3.2E-05 3.5E-05 0.700 0
dbSNP: rs1241706645
rs1241706645
QARS1
1 1.000 3 49102251 frameshift variant C/- delins 0.700 0
dbSNP: rs1553751717
rs1553751717
QARS1
1 1.000 3 49099346 frameshift variant G/- delins 0.700 0
dbSNP: rs1559966797
rs1559966797
QARS1
1 1.000 3 49099176 frameshift variant GT/- delins 0.700 0
dbSNP: rs767667312
rs767667312
QARS1 ; MIR6890
1 1.000 3 49099391 stop gained G/A snv 8.0E-06 3.5E-05 0.700 0
dbSNP: rs775652214
rs775652214
QARS1 ; MIR6890
1 1.000 3 49099971 frameshift variant CT/- del 5.2E-05 2.8E-05 0.700 0