Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency ×
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: 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