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: rs10097891
rs10097891 		1.000 0.040 8 1778643 intron variant C/A snv 0.70
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: 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: rs104894060
rs104894060 		0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06
CUI: C1864923
Disease: Northern epilepsy syndrome
Northern epilepsy syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
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: rs104894064
rs104894064 		0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05
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 2 2000 2004
dbSNP: rs104894064
rs104894064 		0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 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 0.700 0
dbSNP: rs1057516582
rs1057516582 		1.000 0.120 8 1771317 frameshift variant A/- del
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 0
dbSNP: rs1057516867
rs1057516867 		1.000 0.120 8 1771101 frameshift variant T/- del
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 0
dbSNP: rs11986414
rs11986414 		1.000 0.120 8 1798784 intron variant A/G snv 0.27
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
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: 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: rs142269885
rs142269885 		1.000 0.120 8 1771428 missense variant A/C;G;T snv 9.7E-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 0.700 0
dbSNP: rs143730802
rs143730802 		0.882 0.160 8 1771055 start lost A/G snv 1.2E-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 0.700 0
dbSNP: rs143730802
rs143730802 		0.882 0.160 8 1771055 start lost A/G snv 1.2E-05 7.0E-06
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		0.700 0
dbSNP: rs143730802
rs143730802 		0.882 0.160 8 1771055 start lost A/G snv 1.2E-05 7.0E-06
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs143730802
rs143730802 		0.882 0.160 8 1771055 start lost A/G snv 1.2E-05 7.0E-06
CUI: C4024945
Disease: Generalized cerebral atrophy/hypoplasia
Generalized cerebral atrophy/hypoplasia 		0.700 0
dbSNP: rs144495588
rs144495588 		0.925 0.120 8 1771553 stop gained G/C;T snv 8.0E-06; 1.2E-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 2 2000 2015
dbSNP: rs144495588
rs144495588 		0.925 0.120 8 1771553 stop gained G/C;T snv 8.0E-06; 1.2E-05
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 0
dbSNP: rs149308952
rs149308952 		1.000 0.120 8 1771524 missense variant A/G snv 1.6E-05 2.8E-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 0
dbSNP: rs1554448874
rs1554448874 		1.000 0.120 8 1771056 start lost T/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 0.700 0
dbSNP: rs1554448924
rs1554448924 		1.000 0.120 8 1771104 frameshift variant A/- del
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 0
dbSNP: rs1554449028
rs1554449028 		1.000 0.120 8 1771257 frameshift variant C/- 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 0