ASPA, aspartoacylase, 443

N. diseases: 123; N. variants: 65
Disease: Canavan Disease ×
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: rs1057516309
rs1057516309 		1.000 0.120 17 3499068 frameshift variant A/- del
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516315
rs1057516315 		1.000 0.120 17 3494408 frameshift variant C/- delins
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516498
rs1057516498 		1.000 0.120 17 3494364 frameshift variant CC/- delins
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516962
rs1057516962 		1.000 0.120 17 3481611 frameshift variant T/- del
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517066
rs1057517066 		1.000 0.120 17 3498889 splice acceptor variant A/G snv
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517291
rs1057517291 		1.000 0.120 17 3481602 splice acceptor variant G/A;T snv
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs147763700
rs147763700 		1.000 0.120 17 3489312 missense variant G/C;T snv 4.0E-06 7.0E-06
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555538157
rs1555538157 		1.000 0.120 17 3476396 splice donor variant G/A snv
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555539105
rs1555539105 		1.000 0.120 17 3483579 frameshift variant -/AA delins
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555539897
rs1555539897 		1.000 0.120 17 3489332 frameshift variant T/- delins
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555540674
rs1555540674 		1.000 0.120 17 3494393 frameshift variant GAGA/- delins
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555541278
rs1555541278 		1.000 0.120 17 3498890 splice acceptor variant G/A snv
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555541291
rs1555541291 		1.000 0.120 17 3498941 frameshift variant -/G delins
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555541304
rs1555541304 		1.000 0.120 17 3498976 frameshift variant C/- delins
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs375736464
rs375736464 		1.000 0.120 17 3499013 stop gained C/A;T snv 1.6E-05
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs377217076
rs377217076 		1.000 0.120 17 3498916 missense variant C/G snv 8.1E-06 7.0E-06
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs773049803
rs773049803 		1.000 0.120 17 3481751 missense variant G/A snv 4.0E-06
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs778385612
rs778385612 		1.000 0.120 17 3489233 splice acceptor variant A/C snv 4.0E-06
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894549
rs104894549 		1.000 0.120 17 3494369 stop gained C/A;T snv 8.0E-06; 2.4E-05
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 1995 1995
dbSNP: rs1057517085
rs1057517085 		1.000 0.120 17 3498972 frameshift variant GT/- delins
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 1995 1995
dbSNP: rs766720790
rs766720790 		1.000 0.120 17 3499016 frameshift variant AGAA/- delins 8.0E-06
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 1996 1996
dbSNP: rs767666474
rs767666474 		1.000 0.120 17 3476191 frameshift variant T/- del 4.0E-06
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 1996 1996
dbSNP: rs12948217
rs12948217 		0.925 0.120 17 3494408 stop gained C/A;T snv 5.6E-05; 0.26
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 1994 2000
dbSNP: rs756198538
rs756198538 		0.925 0.120 17 3481603 frameshift variant -/A delins 4.0E-06 1.4E-05
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 1999 2002
dbSNP: rs780936696
rs780936696 		0.925 0.120 17 3481601 splice acceptor variant A/T snv 2.1E-05
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2002 2006