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: rs121908139
rs121908139 		1.000 0.080 2 201744285 stop gained G/A snv
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2008 2008
dbSNP: rs767350733
rs767350733 		0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 7 1992 2017
dbSNP: rs767350733
rs767350733 		0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 7 1992 2017
dbSNP: rs386134175
rs386134175 		1.000 0.080 2 201760986 frameshift variant AT/- delins 7.0E-06
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2002 2002
dbSNP: rs1060503672
rs1060503672 		1.000 0.080 2 201746749 splice acceptor variant C/T snv
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121908137
rs121908137 		1.000 0.080 2 201726854 stop gained G/A;T snv 3.9E-04
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121908138
rs121908138 		1.000 0.080 2 201761524 missense variant C/T snv
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1553511680
rs1553511680 		1.000 0.080 2 201746643 stop gained G/A snv
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs202219507
rs202219507 		1.000 0.040 2 201733377 missense variant T/A snv 4.9E-04 5.9E-04
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		Nervous System Diseases 0.700 0
dbSNP: rs369577952
rs369577952 		0.882 0.120 2 201757640 stop gained A/C;G snv 8.0E-06 7.0E-06
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs369577952
rs369577952 		0.882 0.120 2 201757640 stop gained A/C;G snv 8.0E-06 7.0E-06
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		Nervous System Diseases 0.700 0
dbSNP: rs369577952
rs369577952 		0.882 0.120 2 201757640 stop gained A/C;G snv 8.0E-06 7.0E-06
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134173
rs386134173 		1.000 0.080 2 201767266 frameshift variant T/- del
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134174
rs386134174 		0.925 0.080 2 201761441 frameshift variant T/- del
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		Nervous System Diseases 0.700 0
dbSNP: rs386134174
rs386134174 		0.925 0.080 2 201761441 frameshift variant T/- del
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134176
rs386134176 		1.000 0.040 2 201757445 frameshift variant CT/- delins
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		Nervous System Diseases 0.700 0
dbSNP: rs386134181
rs386134181 		0.925 0.080 2 201746696 frameshift variant AG/- del 1.4E-05
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		Nervous System Diseases 0.700 0
dbSNP: rs386134181
rs386134181 		0.925 0.080 2 201746696 frameshift variant AG/- del 1.4E-05
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134183
rs386134183 		1.000 0.080 2 201733318 frameshift variant AT/- del
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134184
rs386134184 		1.000 0.040 2 201726868 splice acceptor variant T/C snv
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		Nervous System Diseases 0.700 0
dbSNP: rs386134187
rs386134187 		1.000 0.080 2 201723335 frameshift variant T/- delins
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386134188
rs386134188 		1.000 0.080 2 201704571 frameshift variant A/- del
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs387906316
rs387906316 		1.000 0.080 2 201754672 splice acceptor variant C/A snv
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587777132
rs587777132 		0.882 0.120 2 201728592 stop gained G/A;T snv
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs730882255
rs730882255 		1.000 0.080 2 201744426 stop gained C/A snv
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0