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: 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: 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: rs745976989
rs745976989 		4 177438779 stop gained C/T snv 8.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs74626221
rs74626221 		4 177442342 missense variant C/A;G snv 1.4E-02; 2.0E-05
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs748171793
rs748171793 		4 177437490 stop gained G/A;T snv 2.8E-05; 4.0E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs765070743
rs765070743 		4 177439651 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs937973897
rs937973897 		4 177442373 start lost C/G;T snv
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs986682657
rs986682657 		4 177437521 splice acceptor variant 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: 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: 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: 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: 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: 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: 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
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: 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: 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: 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: 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