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: rs754087904
rs754087904 		1.000 0.120 17 3481798 splice region variant G/A snv 2.2E-05 7.0E-06
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs28940574
rs28940574 		0.925 0.120 17 3499060 missense variant C/A;T snv 2.1E-04; 4.0E-06
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 24 1993 2017
dbSNP: rs761064915
rs761064915 		1.000 0.120 17 3498966 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 23 1993 2017
dbSNP: rs786204572
rs786204572 		1.000 0.120 17 3489249 missense variant C/A 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 22 1993 2017
dbSNP: rs774323189
rs774323189 		0.925 0.120 17 3499005 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 21 1993 2017
dbSNP: rs28940279
rs28940279 		0.851 0.120 17 3499000 missense variant A/C snv 4.3E-04 2.7E-04
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 20 1993 2018
dbSNP: rs766328537
rs766328537 		0.925 0.120 17 3476238 missense variant G/A snv 3.2E-05 3.5E-05
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 20 1993 2017