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: rs1131691792
rs1131691792 		1.000 0.040 X 19355395 missense variant C/T snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1131692230
rs1131692230 		0.807 0.160 X 19353124 missense variant A/G snv
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1131692230
rs1131692230 		0.807 0.160 X 19353124 missense variant A/G snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1131692230
rs1131692230 		0.807 0.160 X 19353124 missense variant A/G snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		Nervous System Diseases 0.700 0
dbSNP: rs1131692230
rs1131692230 		0.807 0.160 X 19353124 missense variant A/G snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1131692230
rs1131692230 		0.807 0.160 X 19353124 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1131692230
rs1131692230 		0.807 0.160 X 19353124 missense variant A/G snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.700 0
dbSNP: rs1131692230
rs1131692230 		0.807 0.160 X 19353124 missense variant A/G snv
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1131692230
rs1131692230 		0.807 0.160 X 19353124 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1131692230
rs1131692230 		0.807 0.160 X 19353124 missense variant A/G snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121917898
rs121917898 		1.000 0.040 X 19355393 missense variant A/C snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137853251
rs137853251 		1.000 0.040 X 19358953 frameshift variant AGA/-;AGAAAGA delins
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555933954
rs1555933954 		1.000 0.040 X 19353118 missense variant C/T snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555933963
rs1555933963 		1.000 0.040 X 19353154 missense variant A/G snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555934165
rs1555934165 		1.000 0.040 X 19354516 missense variant T/G snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555934379
rs1555934379 		1.000 0.040 X 19355483 synonymous variant C/T snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555935223
rs1555935223 		1.000 0.040 X 19358946 inframe deletion AAG/- delins
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555935690
rs1555935690 		1.000 0.040 X 19359731 3 prime UTR variant -/AGTCAATGAAAT delins
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1569190079
rs1569190079 		0.882 0.160 X 19350044 missense variant G/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1569190079
rs1569190079 		0.882 0.160 X 19350044 missense variant G/T snv
CUI: C0034345
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569190079
rs1569190079 		0.882 0.160 X 19350044 missense variant G/T snv
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1569190079
rs1569190079 		0.882 0.160 X 19350044 missense variant G/T snv
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1569190079
rs1569190079 		0.882 0.160 X 19350044 missense variant G/T snv
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1569190079
rs1569190079 		0.882 0.160 X 19350044 missense variant G/T snv
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		0.700 0
dbSNP: rs1569190079
rs1569190079 		0.882 0.160 X 19350044 missense variant G/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0