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: 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: 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: 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: 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: rs606231184
rs606231184 		1.000 0.040 X 19359640 frameshift variant CAGT/- delins
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231186
rs606231186 		1.000 0.040 X 19359639 frameshift variant AA/- del
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231187
rs606231187 		1.000 0.040 X 19359550 frameshift variant AGCCACCTTTGGAAGAGCTG/- delins
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231189
rs606231189 		0.925 0.040 X 19359619 frameshift variant -/ATCA delins
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231191
rs606231191 		1.000 0.040 X 19359553 inframe insertion -/GCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC delins
CUI: C1839413
Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs863224147
rs863224147 		1.000 0.040 X 19359612 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