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: 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
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: 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: 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: rs886039227
rs886039227 		0.925 0.200 2 74378123 missense variant A/C snv
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs886039227
rs886039227 		0.925 0.200 2 74378123 missense variant A/C snv
CUI: C0949664
Disease: Tauopathies
Tauopathies 		Nervous System Diseases 0.010 1.000 1 2018 2018
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