PINK1, PTEN induced kinase 1, 65018

N. diseases: 209; N. variants: 39
Disease: 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: rs74315355
rs74315355 		0.790 0.080 1 20644639 missense variant G/A snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.070 0.857 7 2005 2015
dbSNP: rs3738136
rs3738136 		0.882 0.040 1 20645618 missense variant G/A snv 9.2E-02 5.0E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2004 2006
dbSNP: rs45539432
rs45539432 		0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2007 2018
dbSNP: rs74315359
rs74315359 		0.882 0.040 1 20644651 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2006 2012
dbSNP: rs748343847
rs748343847 		0.827 0.080 1 20633708 missense variant G/A snv 6.9E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2008 2014
dbSNP: rs1043424
rs1043424 		1.000 0.040 1 20650507 missense variant A/C snv 0.29 0.28
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs138050841
rs138050841 		0.925 0.040 1 20637894 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs17852513
rs17852513 		1.000 0.040 1 20638079 missense variant C/G;T snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs45478900
rs45478900 		1.000 0.040 1 20648612 missense variant G/A snv 1.8E-03 1.4E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs730882053
rs730882053 		1.000 0.040 1 20644512 stop gained C/T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs74315356
rs74315356 		0.925 0.040 1 20649054 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs774647122
rs774647122 		1.000 0.040 1 20645703 missense variant T/A snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2019 2019