PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 409; N. variants: 88
Disease: Parkinsonism, Juvenile ×
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: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		Nervous System Diseases 0.010 1.000 1 2001 2001