AGA, aspartylglucosaminidase, 175

N. diseases: 143; N. variants: 55
Disease: Aspartylglucosaminuria ×
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: rs121964905
rs121964905 		4 177433250 missense variant C/T snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 6 1991 2001