DCTN1, dynactin subunit 1, 1639

N. diseases: 116; N. variants: 15
Disease: Progressive supranuclear palsy ×
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: 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