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: rs141659620
rs141659620 		0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs141659620
rs141659620 		0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06
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: rs34753377
rs34753377 		1.000 0.040 16 89543010 non coding transcript exon variant T/A;C;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs369227537
rs369227537 		1.000 0.080 16 89550502 stop gained A/T snv 1.4E-04 9.8E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 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: rs562890289
rs562890289 		1.000 0.080 16 89544770 stop gained C/T snv 1.2E-05 3.5E-05
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 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: 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: 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: rs72547551
rs72547551 		0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04
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: rs72547551
rs72547551 		0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs72547551
rs72547551 		0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs72547551
rs72547551 		0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs747503698
rs747503698 		1.000 0.080 16 89553952 frameshift variant -/T delins 4.4E-05 3.5E-05
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs748255454
rs748255454 		1.000 0.080 16 89554495 frameshift variant GCTGGTGGCCAAGGCCT/- delins 2.8E-05
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs748309520
rs748309520 		0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06
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: rs748309520
rs748309520 		0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs748309520
rs748309520 		0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs748309520
rs748309520 		0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs748309520
rs748309520 		0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs752989523
rs752989523 		0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs752989523
rs752989523 		0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06
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: rs752989523
rs752989523 		0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs752989523
rs752989523 		0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016