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: rs104894386
rs104894386 		0.925 0.120 13 76995077 missense variant G/A;C snv 8.0E-06
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 10 1998 2015
dbSNP: rs148862100
rs148862100 		1.000 0.120 13 77000866 missense variant A/G snv 1.3E-05 7.0E-06
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 10 1998 2015
dbSNP: rs28940280
rs28940280 		0.925 0.120 13 77000580 missense variant G/A snv 8.0E-06
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 10 1998 2015
dbSNP: rs386833968
rs386833968 		1.000 0.120 13 77000882 stop gained G/A;T snv 4.3E-06
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 10 1998 2015
dbSNP: rs386833975
rs386833975 		0.925 0.120 13 76995990 missense variant A/G snv
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 10 1998 2015
dbSNP: rs386833976
rs386833976 		1.000 0.120 13 76996008 missense variant T/C snv 4.0E-06
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 10 1998 2015
dbSNP: rs386833977
rs386833977 		1.000 0.120 13 76996028 missense variant C/T snv
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 10 1998 2015
dbSNP: rs386833978
rs386833978 		1.000 0.120 13 76996035 missense variant G/C snv
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 10 1998 2015
dbSNP: rs386833981
rs386833981 		0.925 0.120 13 77000517 missense variant T/G snv
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 10 1998 2015
dbSNP: rs386833980
rs386833980 		0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 2010 2015
dbSNP: rs386833980
rs386833980 		0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-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 3 2009 2015
dbSNP: rs104894385
rs104894385 		0.925 0.120 13 76992176 stop gained G/A;T snv 2.7E-05; 3.1E-05
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2000 2002
dbSNP: rs121908292
rs121908292 		1.000 0.120 13 77000799 stop gained G/T snv
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2008 2013
dbSNP: rs869312751
rs869312751 		1.000 0.120 13 76996109 stop gained C/T snv
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2012 2015
dbSNP: rs199609750
rs199609750 		1.000 0.080 13 77000704 missense variant A/G snv 9.2E-05 8.4E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs386833971
rs386833971 		1.000 0.120 13 76995175 stop gained C/T snv 2.4E-05
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs386833972
rs386833972 		1.000 0.120 13 76995939 stop gained T/G snv 4.0E-06; 4.0E-06
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs386833981
rs386833981 		0.925 0.120 13 77000517 missense variant T/G snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs386833981
rs386833981 		0.925 0.120 13 77000517 missense variant T/G snv
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs546989392
rs546989392 		0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-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 1 2013 2013
dbSNP: rs546989392
rs546989392 		0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-05
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs9565309
rs9565309 		13 77002892 3 prime UTR variant T/C snv 3.6E-02
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.700 1.000 1 2016 2016
dbSNP: rs104894385
rs104894385 		0.925 0.120 13 76992176 stop gained G/A;T snv 2.7E-05; 3.1E-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: rs104894386
rs104894386 		0.925 0.120 13 76995077 missense variant G/A;C snv 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: rs147065248
rs147065248 		1.000 0.120 13 76996034 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0