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: rs398122974
rs398122974 		1.000 7 97852297 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.810 1.000 3 2013 2016
dbSNP: rs398122973
rs398122973 		1.000 7 97855406 missense variant A/C snv
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.800 1.000 1 2013 2013
dbSNP: rs398122975
rs398122975 		1.000 7 97869140 missense variant G/A;T snv 2.4E-05; 1.2E-05
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.800 1.000 1 2013 2013
dbSNP: rs148111963
rs148111963 		1.000 7 97858901 missense variant A/G snv 4.0E-06 2.1E-05
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.700 0
dbSNP: rs1481539409
rs1481539409 		1.000 7 97859285 frameshift variant T/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1481539409
rs1481539409 		1.000 7 97859285 frameshift variant T/- delins
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.700 0
dbSNP: rs1554350554
rs1554350554 		1.000 7 97868955 missense variant G/T snv
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.700 0
dbSNP: rs1562817048
rs1562817048 		1.000 7 97859317 stop gained A/C snv
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.700 0
dbSNP: rs769236847
rs769236847 		0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.700 0
dbSNP: rs780288372
rs780288372 		1.000 7 97856689 splice donor variant C/T snv 4.1E-06
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.700 0
dbSNP: rs797045306
rs797045306 		1.000 7 97864333 missense variant T/A snv
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.700 0
dbSNP: rs797045307
rs797045307 		1.000 7 97864268 frameshift variant C/- del
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.700 0
dbSNP: rs948326794
rs948326794 		1.000 7 97854653 stop gained C/A;G snv 1.4E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs948326794
rs948326794 		1.000 7 97854653 stop gained C/A;G snv 1.4E-05
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.700 0
dbSNP: rs34050735
rs34050735 		1.000 0.080 7 97871848 5 prime UTR variant G/C;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs754043007
rs754043007 		1.000 7 97853097 missense variant G/A snv 2.1E-05 7.0E-06
CUI: C3809971
Disease: ASPARAGINE SYNTHETASE DEFICIENCY
ASPARAGINE SYNTHETASE DEFICIENCY 		0.010 1.000 1 2016 2016
dbSNP: rs769236847
rs769236847 		0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs769236847
rs769236847 		0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs769236847
rs769236847 		0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs769236847
rs769236847 		0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs769236847
rs769236847 		0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs769236847
rs769236847 		0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.010 1.000 1 2019 2019
dbSNP: rs769236847
rs769236847 		0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018