PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Disease: Young onset Parkinson disease ×
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: rs45539432
rs45539432 		0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.020 1.000 2 2006 2014
dbSNP: rs3738136
rs3738136 		0.882 0.040 1 20645618 missense variant G/A snv 9.2E-02 5.0E-02
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs74315359
rs74315359 		0.882 0.040 1 20644651 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs74315360
rs74315360 		0.925 0.040 1 20638104 missense variant C/A snv
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.010 1.000 1 2017 2017