QARS1, glutaminyl-tRNA synthetase 1, 5859

N. diseases: 41; N. variants: 14
Disease: Seizures ×
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: 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: rs185476065
rs185476065 		0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587777333
rs587777333 		0.925 0.120 3 49104420 missense variant A/G snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015