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: 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: 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: 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: 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: 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: rs1555934843
rs1555934843 		1.000 X 19357651 splice acceptor variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 1995 2016
dbSNP: rs1555934843
rs1555934843 		1.000 X 19357651 splice acceptor variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1995 2016
dbSNP: rs1555934843
rs1555934843 		1.000 X 19357651 splice acceptor variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 1995 2016
dbSNP: rs606231189
rs606231189 		0.925 0.040 X 19359619 frameshift variant -/ATCA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1995 2016
dbSNP: rs606231189
rs606231189 		0.925 0.040 X 19359619 frameshift variant -/ATCA delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 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: 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: rs1569189834
rs1569189834 		1.000 0.040 X 19349311 splice acceptor 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 2011
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: rs1057518702
rs1057518702 		1.000 0.040 X 19351258 splice acceptor variant A/G snv 9.5E-06
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1555935486
rs1555935486 		1.000 0.120 X 19359529 inframe insertion -/CCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCG delins
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 1.000 1 2011 2011
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