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: rs149474131
rs149474131 		16 89513008 stop gained C/A;G;T snv 4.0E-06; 5.7E-05; 4.9E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 13 2012 2017
dbSNP: rs382745
rs382745 		16 89537178 3 prime UTR variant A/G snv 0.47
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4785574
rs4785574 		16 89502467 intron variant A/C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs756535079
rs756535079 		16 89544732 missense variant G/A;T snv 8.0E-06 7.0E-06
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.720 1.000 15 2006 2018
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 13 2012 2017
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 2006 2016
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.720 1.000 3 2016 2019
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.020 1.000 2 2006 2013
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2019 2019
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C3711370
Disease: Spastic Paraplegia Type 7
Spastic Paraplegia Type 7 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.710 1.000 1 2012 2012
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C4024175
Disease: Cerebellar ataxia associated with quadrupedal gait
Cerebellar ataxia associated with quadrupedal gait 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0239831
Disease: Hand muscle weakness
Hand muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0