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: rs587777004
rs587777004 		1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 2013 2018
dbSNP: rs1553283037
rs1553283037 		1.000 1 244860382 missense variant T/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 13 2010 2017
dbSNP: rs1553283037
rs1553283037 		1.000 1 244860382 missense variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 2010 2017
dbSNP: rs1135401732
rs1135401732 		1.000 0.040 1 244859303 stop gained C/A;G;T snv 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401733
rs1135401733 		1.000 0.040 1 244856757 stop gained G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401734
rs1135401734 		1.000 0.040 1 244855505 frameshift variant AG/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs779453109
rs779453109 		1.000 0.040 1 244863648 frameshift variant GCCTTCCGCC/- delins 1.2E-05 2.8E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057524914
rs1057524914 		1.000 1 244854456 stop gained AT/TC mnv
CUI: C4479319
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 		0.700 0
dbSNP: rs1057524915
rs1057524915 		1.000 1 244863797 stop gained G/A snv
CUI: C4479319
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 		0.700 0
dbSNP: rs1057524916
rs1057524916 		1.000 1 244856556 frameshift variant -/A delins
CUI: C4479319
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 		0.700 0
dbSNP: rs1135401733
rs1135401733 		1.000 0.040 1 244856757 stop gained G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1135401733
rs1135401733 		1.000 0.040 1 244856757 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1135401794
rs1135401794 		1.000 1 244864292 frameshift variant C/AAT delins
CUI: C4479319
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 		0.700 0
dbSNP: rs1553281924
rs1553281924 		1.000 1 244854505 splice acceptor variant T/C snv
CUI: C4479319
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 		0.700 0
dbSNP: rs1553282723
rs1553282723 		1.000 1 244858724 splice region variant C/T snv
CUI: C4479319
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 		0.700 0
dbSNP: rs1553283831
rs1553283831 		1 244863711 frameshift variant -/G delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1553283899
rs1553283899 		1.000 1 244863827 stop gained G/A snv
CUI: C4479319
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 		0.700 0
dbSNP: rs1553283916
rs1553283916 		1.000 1 244863906 frameshift variant GT/- del
CUI: C4479319
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 		0.700 0
dbSNP: rs869312701
rs869312701 		1.000 1 244864241 stop gained G/A snv
CUI: C4479319
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 		0.700 0
dbSNP: rs587777004
rs587777004 		1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs587777004
rs587777004 		1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019