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: rs121964904
rs121964904 		4 177438764 missense variant C/G snv 7.8E-04 5.4E-04
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.840 1.000 9 1991 2016
dbSNP: rs121964908
rs121964908 		4 177439668 missense variant G/A snv 4.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1991 2008
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
dbSNP: rs121964906
rs121964906 		4 177433238 missense variant A/G snv 4.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 6 1991 2001
dbSNP: rs121964909
rs121964909 		4 177440340 missense variant A/G snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 6 1991 2001
dbSNP: rs386833432
rs386833432 		4 177434434 missense variant C/G snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 6 1991 2001
dbSNP: rs386833433
rs386833433 		4 177434433 missense variant C/T snv 4.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 6 1991 2001
dbSNP: rs386833434
rs386833434 		4 177434418 missense variant G/A snv 8.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 6 1991 2001
dbSNP: rs386833421
rs386833421 		4 177439671 missense variant C/T snv 4.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 1997 2008
dbSNP: rs386833427
rs386833427 		4 177438848 missense variant A/G snv 7.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs121964907
rs121964907 		4 177440375 missense variant C/T snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1991 2001
dbSNP: rs192195150
rs192195150 		4 177438770 missense variant C/T snv 8.1E-04 5.5E-04
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1991 2001
dbSNP: rs386833431
rs386833431 		4 177436297 splice donor variant C/T snv 4.0E-06 2.8E-05
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1999 2019
dbSNP: rs386833436
rs386833436 		4 177434387 frameshift variant -/A delins 2.8E-05 7.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1991 2001
dbSNP: rs386833437
rs386833437 		4 177433213 splice donor variant C/A;T snv 8.0E-06 7.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1991 1991
dbSNP: rs759063638
rs759063638 		4 177442269 frameshift variant GGCCAAG/- delins 8.0E-06 1.4E-05
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1993 2001
dbSNP: rs1201784742
rs1201784742 		4 177431756 stop gained A/C;G snv 4.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1996 1996
dbSNP: rs386833420
rs386833420 		4 177440353 frameshift variant TCTC/-;TC delins 8.0E-06 2.1E-05
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1995 1995
dbSNP: rs386833425
rs386833425 		4 177439594 frameshift variant GTGT/-;GT delins 8.0E-06 7.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2001 2001
dbSNP: rs386833430
rs386833430 		4 177438749 stop gained C/T snv 1.6E-05
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2001 2001
dbSNP: rs1054938291
rs1054938291 		4 177442375 start lost T/C snv 7.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516565
rs1057516565 		4 177442248 splice donor variant C/T snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057517062
rs1057517062 		4 177442348 frameshift variant G/- del
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057517175
rs1057517175 		4 177436275 splice donor variant C/A snv 4.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057517223
rs1057517223 		4 177439637 frameshift variant A/- del
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0