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: rs104894060
rs104894060
0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 8 2004 2016
dbSNP: rs746645358
rs746645358
1.000 0.120 8 1780415 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 8 2004 2016
dbSNP: rs137852883
rs137852883
1.000 0.120 8 1771142 missense variant G/A;C;T snv 4.0E-06; 2.4E-05
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs139003032
rs139003032
1.000 0.120 8 1780512 missense variant A/G;T snv 2.0E-05; 3.3E-04
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs28940569
rs28940569
1.000 0.120 8 1780495 missense variant G/C snv
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs386834124
rs386834124
0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs386834125
rs386834125
1.000 0.120 8 1771281 missense variant A/G snv
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs386834126
rs386834126
1.000 0.120 8 1771374 missense variant T/G snv
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs386834127
rs386834127
1.000 0.120 8 1771469 missense variant C/T snv 4.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs386834130
rs386834130
1.000 0.120 8 1771527 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs386834133
rs386834133
1.000 0.120 8 1780287 missense variant A/G snv
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2016
dbSNP: rs104894064
rs104894064
0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05
CUI: C1864923
Disease: Northern epilepsy syndrome
Northern epilepsy syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 2 1999 2012
dbSNP: rs386834129
rs386834129
1.000 0.120 8 1771100 missense variant C/A;G;T snv 2.0E-05; 4.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2004 2016
dbSNP: rs386834134
rs386834134
1.000 0.120 8 1780317 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2004 2016
dbSNP: rs386834136
rs386834136
1.000 0.120 8 1780367 missense variant G/A snv 4.4E-05 3.5E-05
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2004 2016
dbSNP: rs781166361
rs781166361
1.000 0.120 8 1780326 missense variant T/G snv 4.0E-06
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2004 2016
dbSNP: rs104894060
rs104894060
0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 2004 2014
dbSNP: rs1366421988
rs1366421988
1.000 8 1771146 missense variant G/A;T snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 3 2015 2017
dbSNP: rs1366421988
rs1366421988
1.000 8 1771146 missense variant G/A;T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2015 2017
dbSNP: rs386834124
rs386834124
0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 3 2015 2017
dbSNP: rs386834124
rs386834124
0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2015 2017
dbSNP: rs386834124
rs386834124
0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 3 2015 2017
dbSNP: rs386834132
rs386834132
1.000 0.120 8 1780265 frameshift variant CT/- delins
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2000 2012
dbSNP: rs761621368
rs761621368
1.000 8 1780408 frameshift variant C/- delins 4.0E-06 3.5E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 3 2015 2017
dbSNP: rs761621368
rs761621368
1.000 8 1780408 frameshift variant C/- delins 4.0E-06 3.5E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2015 2017