DCTN1, dynactin subunit 1, 1639

N. diseases: 116; N. variants: 15
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: rs886039227
rs886039227 		0.925 0.200 2 74378123 missense variant A/C snv
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.820 1.000 8 2009 2018
dbSNP: rs72466485
rs72466485 		0.882 0.200 2 74378068 missense variant C/T snv
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.810 1.000 7 2009 2016
dbSNP: rs121909342
rs121909342 		0.827 0.200 2 74378104 missense variant C/G;T snv
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		Nervous System Diseases 0.800 1.000 9 2003 2016
dbSNP: rs72466486
rs72466486 		1.000 0.160 2 74378065 missense variant T/G snv
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 6 2009 2016
dbSNP: rs72466487
rs72466487 		1.000 0.160 2 74378058 missense variant T/C;G snv 8.0E-06
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 6 2009 2016
dbSNP: rs886039229
rs886039229 		1.000 0.160 2 74378046 missense variant T/C snv
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 6 2009 2016
dbSNP: rs67586389
rs67586389 		1.000 0.160 2 74378067 missense variant C/G;T snv
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.710 1.000 1 2018 2018
dbSNP: rs121909342
rs121909342 		0.827 0.200 2 74378104 missense variant C/G;T snv
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 7 2003 2016
dbSNP: rs121909342
rs121909342 		0.827 0.200 2 74378104 missense variant C/G;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 2003 2016
dbSNP: rs121909344
rs121909344 		0.925 0.080 2 74366896 missense variant G/A;C snv 1.9E-04
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 2004 2012
dbSNP: rs72466496
rs72466496 		1.000 0.080 2 74361590 missense variant G/A snv 2.9E-03 2.8E-03
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 2004 2012
dbSNP: rs121909343
rs121909343 		1.000 0.080 2 74368870 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2004 2005
dbSNP: rs121909345
rs121909345 		0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2004 2005
dbSNP: rs121909343
rs121909343 		1.000 0.080 2 74368870 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4016314
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs121909345
rs121909345 		0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C4016314
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs72466496
rs72466496 		1.000 0.080 2 74361590 missense variant G/A snv 2.9E-03 2.8E-03
CUI: C4016314
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs886039228
rs886039228 		1.000 0.160 2 74378079 missense variant C/T snv
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886039227
rs886039227 		0.925 0.200 2 74378123 missense variant A/C snv
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.020 1.000 2 2014 2018
dbSNP: rs121909342
rs121909342 		0.827 0.200 2 74378104 missense variant C/G;T snv
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.010 1.000 1 2009 2009
dbSNP: rs121909342
rs121909342 		0.827 0.200 2 74378104 missense variant C/G;T snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs121909344
rs121909344 		0.925 0.080 2 74366896 missense variant G/A;C snv 1.9E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs121909345
rs121909345 		0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs121909345
rs121909345 		0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs12993079
rs12993079 		1.000 0.080 2 74371100 missense variant T/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs566433112
rs566433112 		1.000 0.120 2 74378112 missense variant T/C snv 1.6E-05 2.1E-05
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016