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: rs1057516416
rs1057516416 		1.000 0.120 17 3494355 stop gained G/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 1.000 3 2002 2007
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: 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: 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: 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
dbSNP: rs1555539857
rs1555539857 		1.000 0.120 17 3489256 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 19 1993 2017
dbSNP: rs769653717
rs769653717 		1.000 0.120 17 3476206 missense variant T/C snv 8.0E-06
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 19 1993 2017
dbSNP: rs104894552
rs104894552 		1.000 0.120 17 3498892 missense variant A/T snv 6.2E-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 18 1993 2017
dbSNP: rs104894548
rs104894548 		1.000 0.120 17 3483520 missense variant T/C 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 16 1993 2017
dbSNP: rs104894550
rs104894550 		1.000 0.120 17 3494407 missense variant A/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 0.800 1.000 16 1993 2017
dbSNP: rs104894551
rs104894551 		1.000 0.120 17 3476230 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 16 1993 2017
dbSNP: rs144321760
rs144321760 		1.000 0.120 17 3483575 missense variant T/C snv 3.7E-04 7.0E-04
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 16 1993 2017
dbSNP: rs1446467099
rs1446467099 		1.000 0.120 17 3481706 missense variant G/T 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 16 1993 2017
dbSNP: rs1555538144
rs1555538144 		1.000 0.120 17 3476248 missense variant T/C snv
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 16 1993 2017
dbSNP: rs1555538148
rs1555538148 		1.000 0.120 17 3476329 missense variant C/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 1.000 16 1993 2017
dbSNP: rs1555538151
rs1555538151 		1.000 0.120 17 3476347 missense variant G/C snv
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 16 1993 2017
dbSNP: rs1555541310
rs1555541310 		1.000 0.120 17 3498985 missense variant C/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 1.000 16 1993 2017
dbSNP: rs750505963
rs750505963 		1.000 0.120 17 3498984 missense variant C/T 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 0.700 1.000 16 1993 2017
dbSNP: rs777936704
rs777936704 		1.000 0.120 17 3481794 missense variant T/C snv 4.2E-06
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 16 1993 2017
dbSNP: rs1057521115
rs1057521115 		1.000 0.120 17 3481734 missense variant G/A snv 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