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: rs863224146
rs863224146 		1.000 0.040 X 19358926 stop gained C/T snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137853252
rs137853252 		1.000 0.040 X 19358920 missense variant C/T snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.800 1.000 21 1991 2017
dbSNP: rs1064794149
rs1064794149 		0.925 0.120 X 19358921 missense variant G/A snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 1.000 18 1991 2017
dbSNP: rs137853250
rs137853250 		1.000 0.040 X 19359613 missense variant G/A;T snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.800 1.000 18 1991 2017
dbSNP: rs137853253
rs137853253 		1.000 0.040 X 19355699 missense variant A/C snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.800 1.000 18 1991 2017
dbSNP: rs137853254
rs137853254 		1.000 0.040 X 19355360 missense variant C/G;T snv 5.5E-06
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.800 1.000 18 1991 2017
dbSNP: rs137853255
rs137853255 		1.000 0.040 X 19355472 missense variant T/A snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.800 1.000 18 1991 2017
dbSNP: rs137853256
rs137853256 		1.000 0.040 X 19358959 missense variant G/A snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.800 1.000 18 1991 2017
dbSNP: rs137853257
rs137853257 		1.000 0.040 X 19344066 missense variant G/C snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.800 1.000 18 1991 2017
dbSNP: rs137853258
rs137853258 		1.000 0.040 X 19357683 missense variant G/A snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.800 1.000 18 1991 2017
dbSNP: rs137853259
rs137853259 		1.000 0.040 X 19355713 missense variant C/G snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.800 1.000 18 1991 2017
dbSNP: rs137853252
rs137853252 		1.000 0.040 X 19358920 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 1995 2016
dbSNP: rs863224148
rs863224148 		1.000 0.040 X 19350033 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 10 1995 2016
dbSNP: rs863224148
rs863224148 		1.000 0.040 X 19350033 missense variant C/T snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.800 1.000 5 1992 2015
dbSNP: rs1569191372
rs1569191372 		1.000 0.040 X 19354503 missense variant G/A snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 1.000 3 1995 2000
dbSNP: rs794729213
rs794729213 		1.000 0.040 X 19353085 missense variant G/A snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 1.000 2 2000 2001
dbSNP: rs863224150
rs863224150 		1.000 0.040 X 19353169 missense variant C/T snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 1.000 2 2010 2011
dbSNP: rs1064794149
rs1064794149 		0.925 0.120 X 19358921 missense variant G/A 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 0.010 1.000 1 2008 2008
dbSNP: rs1179002973
rs1179002973 		1.000 0.080 X 19354536 missense variant A/G snv
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1569190962
rs1569190962 		1.000 0.040 X 19353145 missense variant A/G snv
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs755090271
rs755090271 		X 19359501 missense variant G/A;C snv 5.4E-06; 5.4E-06
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2016 2016
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