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: 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
dbSNP: rs1057517239
rs1057517239 		4 177442306 frameshift variant A/- del
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057517329
rs1057517329 		4 177438762 stop gained G/A snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1483909684
rs1483909684 		4 177436353 splice acceptor variant T/A;C snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553993921
rs1553993921 		4 177431810 splice acceptor variant T/C snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553994755
rs1553994755 		4 177439594 frameshift variant G/- del
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553994812
rs1553994812 		4 177440272 splice donor variant C/A snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553994830
rs1553994830 		4 177440362 frameshift variant A/- del
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1560950739
rs1560950739 		4 177440338 frameshift variant A/- del
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1560952256
rs1560952256 		4 177442255 stop gained C/A snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs386833417
rs386833417 		4 177442268 frameshift variant AAAGGGC/- del
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs386833418
rs386833418 		4 177442248 inframe insertion -/CGCATC delins
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs386833419
rs386833419 		4 177440362 stop gained A/T snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs386833422
rs386833422 		4 177439634 frameshift variant A/- delins
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs386833423
rs386833423 		4 177439624 missense variant G/A snv 4.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs386833424
rs386833424 		4 177439597 frameshift variant TGTGT/- del
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs386833426
rs386833426 		4 177438865 splice region variant T/C snv 8.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
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: rs386833428
rs386833428 		4 177438813 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs386833429
rs386833429 		4 177442332 missense variant A/C snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs386833435
rs386833435 		4 177434400 frameshift variant A/- delins
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0