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: rs386833973
rs386833973 		1.000 0.120 13 76995942 frameshift variant -/A ins
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
dbSNP: rs1555273604
rs1555273604 		1.000 0.120 13 76992207 frameshift variant -/ATCCGGGCTGG delins
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: rs386833979
rs386833979 		0.925 0.120 13 76996083 frameshift variant -/C delins
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 3 2000 2012
dbSNP: rs386833979
rs386833979 		0.925 0.120 13 76996083 frameshift variant -/C delins
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 2012 2012
dbSNP: rs386833970
rs386833970 		1.000 0.120 13 76992238 frameshift variant -/C delins
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
dbSNP: rs1555274337
rs1555274337 		1.000 0.120 13 77000556 frameshift variant -/CAGAGACA delins
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
dbSNP: rs1555274005
rs1555274005 		1.000 0.120 13 76996071 frameshift variant -/TGATG delins
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
dbSNP: rs1555274369
rs1555274369 		1.000 0.120 13 77000796 frameshift variant A/- delins
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
dbSNP: rs386833982
rs386833982 		1.000 0.120 13 77000663 frameshift variant A/- delins
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
dbSNP: rs764008859
rs764008859 		13 77007548 frameshift variant A/- delins 7.0E-06
CUI: C1853507
Disease: Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Wounds and Injuries 0.700 0
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: 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: 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: rs1566225872
rs1566225872 		13 77007360 missense variant A/G snv
CUI: C1853507
Disease: Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Wounds and Injuries 0.700 0
dbSNP: rs386833975
rs386833975 		0.925 0.120 13 76995990 missense variant A/G snv
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: rs386833967
rs386833967 		0.925 0.120 13 77000845 frameshift variant AACA/- delins 2.8E-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 2008 2012
dbSNP: rs386833967
rs386833967 		0.925 0.120 13 77000845 frameshift variant AACA/- delins 2.8E-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 0
dbSNP: rs1057517134
rs1057517134 		1.000 0.120 13 76992250 frameshift variant ACTGGCCGGTGCC/- delins
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
dbSNP: rs386833969
rs386833969 		0.925 0.120 13 77000918 frameshift variant AT/- delins
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 6 1998 2013
dbSNP: rs386833969
rs386833969 		0.925 0.120 13 77000918 frameshift variant AT/- delins
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 5 2002 2013
dbSNP: rs786204644
rs786204644 		0.925 0.120 13 77000667 frameshift variant AT/- delins
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 1998 2012
dbSNP: rs786204644
rs786204644 		0.925 0.120 13 77000667 frameshift variant AT/- delins
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: rs1555273567
rs1555273567 		1.000 0.120 13 76992116 frameshift variant C/- del
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
dbSNP: rs1555273881
rs1555273881 		1.000 0.120 13 76995075 frameshift variant C/- delins
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: rs1555273882
rs1555273882 		1.000 0.120 13 76995079 frameshift variant C/- delins
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