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: rs1414684396
rs1414684396 		1.000 0.120 17 3499003 missense variant C/A 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 1.000 14 1993 2017
dbSNP: rs776777887
rs776777887 		1.000 0.120 17 3476365 missense variant T/G 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 1.000 14 1993 2017
dbSNP: rs937670540
rs937670540 		1.000 0.120 17 3483568 missense variant C/T 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 1.000 14 1993 2017
dbSNP: rs104894553
rs104894553 		1.000 0.120 17 3476371 missense variant G/A snv 2.2E-04 1.5E-04
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 7 2006 2015
dbSNP: rs770706390
rs770706390 		1.000 0.120 17 3483569 missense variant G/A snv 5.2E-05 2.1E-05
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 6 2000 2012
dbSNP: rs1057516995
rs1057516995 		1.000 0.120 17 3494446 missense 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 0.800 1.000 4 2002 2009
dbSNP: rs1014551540
rs1014551540 		1.000 0.120 17 3489247 missense variant G/T snv 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 2008 2009
dbSNP: rs199565861
rs199565861 		1.000 0.120 17 3481793 missense variant A/G;T snv 2.6E-04; 4.2E-06
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.720 1.000 2 2017 2017
dbSNP: rs747438350
rs747438350 		1.000 0.120 17 3489265 missense variant T/A;C snv
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs779440632
rs779440632 		1.000 0.120 17 3476321 missense variant C/A snv 1.2E-05
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
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: 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: rs753871454
rs753871454 		0.925 0.120 17 3489343 splice donor variant G/T snv 8.0E-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 1.000 4 2000 2009
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: 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: rs786204620
rs786204620 		1.000 0.120 17 3481610 frameshift variant AT/- del
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 2006 2006
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: rs1057517260
rs1057517260 		1.000 0.120 17 3499069 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 1.000 1 2006 2006
dbSNP: rs1555538825
rs1555538825 		1.000 0.120 17 3481748 frameshift variant C/- del
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 2006 2006
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: 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