DPYS, dihydropyrimidinase, 1807

N. diseases: 63; N. variants: 8
Disease: Dihydropyrimidinase 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: rs267606774
rs267606774 		1.000 0.080 8 104424247 missense variant C/A snv
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0