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: rs781652026
rs781652026
TWNK
1 10 100989789 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs55739947
rs55739947
LRRK1
1 15 101010802 missense variant C/A snv 9.3E-03 8.4E-03 0.010 1.000 1 2010 2010
dbSNP: rs367543041
rs367543041
TARDBP
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs139548132
rs139548132
WARS2 ; WARS2-AS1
2 1.000 1 119140608 missense variant A/C;G;T snv 3.2E-03; 1.6E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs12817488
rs12817488
CCDC62
3 1.000 0.040 12 122811747 intron variant G/A snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs387907571
rs387907571
DNAJC13
6 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 0.020 1.000 2 2014 2015
dbSNP: rs1057518882
rs1057518882
CYTB ; ND5 ; ND6
2 MT 14598 missense variant T/C snv 0.700 0
dbSNP: rs1555727942
rs1555727942
NOTCH3 ; MIR6795
3 0.925 0.160 19 15180807 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.730 1.000 3 2016 2018
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.020 1.000 2 2013 2016
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.020 1.000 2 2013 2016
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
dbSNP: rs369634041
rs369634041
PRKN
3 6 162262647 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs368134308
rs368134308
PRKN
4 0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04 0.010 1.000 1 2001 2001
dbSNP: rs2421947
rs2421947
DNM3 ; DNM3-IT1
2 1.000 0.040 1 171863954 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs757199733
rs757199733
TTN
2 2 178799505 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs113388242
rs113388242
EIF4G1
3 0.925 0.080 3 184327376 missense variant C/T snv 4.0E-05 7.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs112176450
rs112176450
EIF4G1
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 1.000 1 2011 2011
dbSNP: rs774457232
rs774457232
EIF4G1
3 0.925 0.080 3 184331303 missense variant G/A;T snv 6.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs4606
rs4606
RGS2
16 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 0.030 1.000 3 2007 2010
dbSNP: rs1426868527
rs1426868527
PINK1 ; MIR6084
3 1 20633841 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs775809722
rs775809722
PINK1 ; MIR6084
2 1.000 0.040 1 20633925 missense variant A/C;G snv 5.3E-06; 3.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs756677845
rs756677845
PINK1
1 1 20638074 frameshift variant G/- del 0.700 0
dbSNP: rs74315360
rs74315360
PINK1
3 0.925 0.040 1 20638104 missense variant C/A snv 0.010 1.000 1 2017 2017