Gene: PINK1 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs74315355
rs74315355
PINK1 ; PINK1-AS
7 0.790 0.080 1 20644639 missense variant G/A snv 0.070 0.857 7 2005 2015
dbSNP: rs3738136
rs3738136
PINK1 ; PINK1-AS
3 0.882 0.040 1 20645618 missense variant G/A snv 9.2E-02 5.0E-02 0.020 1.000 2 2004 2006
dbSNP: rs45539432
rs45539432
PINK1 ; PINK1-AS
5 0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05 0.020 1.000 2 2007 2018
dbSNP: rs74315359
rs74315359
PINK1 ; PINK1-AS
3 0.882 0.040 1 20644651 missense variant C/T snv 2.0E-05 1.4E-05 0.020 1.000 2 2006 2012
dbSNP: rs748343847
rs748343847
PINK1 ; MIR6084
5 0.827 0.080 1 20633708 missense variant G/A snv 6.9E-05 0.020 1.000 2 2008 2014
dbSNP: rs1043424
rs1043424
PINK1 ; PINK1-AS
1 1.000 0.040 1 20650507 missense variant A/C snv 0.29 0.28 0.010 1.000 1 2004 2004
dbSNP: rs138050841
rs138050841
PINK1
2 0.925 0.040 1 20637894 missense variant G/A snv 2.0E-05 3.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs17852513
rs17852513
PINK1
1 1.000 0.040 1 20638079 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs45478900
rs45478900
PINK1 ; PINK1-AS
1 1.000 0.040 1 20648612 missense variant G/A snv 1.8E-03 1.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs730882053
rs730882053
PINK1 ; PINK1-AS
1 1.000 0.040 1 20644512 stop gained C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs74315356
rs74315356
PINK1 ; PINK1-AS
3 0.925 0.040 1 20649054 stop gained G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs774647122
rs774647122
PINK1 ; PINK1-AS
1 1.000 0.040 1 20645703 missense variant T/A snv 4.0E-06 0.010 1.000 1 2019 2019