Disease: Propionic acidemia ×
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: rs745571507
rs745571507 		1.000 0.080 13 100262733 frameshift variant G/- delins 3.2E-05 3.5E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2003 2008