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: rs1064796807
rs1064796807 		1.000 0.120 11 34916789 stop gained G/A snv
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs113309941
rs113309941 		1.000 0.120 11 34966740 stop gained C/G;T snv 1.2E-05
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1135402725
rs1135402725 		0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1158194122
rs1158194122 		1.000 0.040 11 34916459 frameshift variant T/- del 2.6E-05
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554989996
rs1554989996 		1.000 0.120 11 34978124 frameshift variant ATGACATTAAAGTATCAGTAAATGATTTTATCATCAAGGCAGCAGCTGTTACCCTTAAA/- del
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs724159828
rs724159828 		1.000 0.120 11 34916742 frameshift variant AAGG/- delins
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs724159829
rs724159829 		1.000 0.120 11 34960519 splice donor variant G/A snv
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs724159830
rs724159830 		1.000 0.120 11 34984569 splice acceptor variant G/A snv
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs724159979
rs724159979 		1.000 0.120 11 34960495 frameshift variant C/- delins
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1135402725
rs1135402725 		0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1135402725
rs1135402725 		0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1135402725
rs1135402725 		0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05
CUI: C4025276
Disease: Congenital lactic acidosis
Congenital lactic acidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1135402725
rs1135402725 		0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2015 2015
dbSNP: rs1135402725
rs1135402725 		0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015