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: rs140948465
rs140948465 		0.925 0.120 4 127930800 missense variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2007 2012
dbSNP: rs267607235
rs267607235 		1.000 0.120 4 127921639 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2007 2012
dbSNP: rs749704755
rs749704755 		1.000 0.120 4 127943775 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2007 2012
dbSNP: rs150418024
rs150418024 		1.000 4 127921956 missense variant C/G;T snv 2.4E-03; 4.0E-06
CUI: C4015371
Disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT 		0.800 1.000 1 2015 2015
dbSNP: rs118203978
rs118203978 		1.000 0.120 4 127943829 missense variant T/C;G snv 4.0E-06
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 0
dbSNP: rs1043984708
rs1043984708 		1.000 0.120 4 127920794 missense variant G/A;T snv 8.0E-06; 8.0E-06
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2007 2012
dbSNP: rs1275962600
rs1275962600 		1.000 0.120 4 127920793 missense variant C/T snv 7.0E-06
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2007 2012
dbSNP: rs764549054
rs764549054 		1.000 0.120 4 127920779 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2007 2012
dbSNP: rs587778809
rs587778809 		0.925 0.120 4 127938781 splice donor variant A/T snv 8.0E-06 2.8E-05
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 2007 2015
dbSNP: rs267607235
rs267607235 		1.000 0.120 4 127921639 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2009 2012
dbSNP: rs724159971
rs724159971 		0.925 0.120 4 127920743 stop gained G/A snv 2.0E-05 2.8E-05
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2009 2018
dbSNP: rs1602084
rs1602084 		4 127922325 intron variant A/G snv 4.9E-02
CUI: C4049919
Disease: Insulin Sensitivity Measurement
Insulin Sensitivity Measurement 		0.700 1.000 1 2015 2015
dbSNP: rs751696703
rs751696703 		1.000 0.120 4 127942160 splice acceptor variant T/A snv
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs868732642
rs868732642 		4 127938782 splice donor variant C/A;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1162750836
rs1162750836 		1.000 0.120 4 127942119 missense variant G/A snv 7.0E-06
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118203975
rs118203975 		1.000 0.120 4 127930752 missense variant C/T snv
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118203976
rs118203976 		1.000 0.120 4 127921588 missense variant C/T snv 4.0E-06
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118203977
rs118203977 		1.000 0.120 4 127930787 stop gained A/C;G snv 4.0E-06; 1.2E-05
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs140948465
rs140948465 		0.925 0.120 4 127930800 missense variant G/A;T snv 4.0E-06; 8.0E-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 0
dbSNP: rs1439582451
rs1439582451 		1.000 0.120 4 127921926 frameshift variant C/- del 4.0E-06
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1460276679
rs1460276679 		1.000 0.120 4 127921876 frameshift variant G/- delins 1.2E-05
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1560747815
rs1560747815 		4 127939999 splice acceptor variant T/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1560776422
rs1560776422 		1.000 0.120 4 127957591 splice acceptor variant C/A snv
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs200319160
rs200319160 		1.000 0.120 4 127932984 splice donor variant C/G;T snv 8.0E-06; 4.0E-06
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs556661896
rs556661896 		1.000 0.120 4 127942073 stop gained A/G;T snv
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0