DCTN1, dynactin subunit 1, 1639

N. diseases: 116; N. variants: 15
Disease: Perry Syndrome ×
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: 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: 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: rs770153273
rs770153273 		0.882 0.200 2 74371569 missense variant C/G snv 3.0E-05
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2010 2010