PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
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: rs137853058
rs137853058 		0.882 0.120 6 161973401 missense variant C/T snv 1.2E-05
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.020 1.000 2 2002 2002
dbSNP: rs1801582
rs1801582 		0.925 0.120 6 161386823 missense variant C/G;T snv 0.16; 3.2E-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 2008 2008