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: rs34424986
rs34424986
PRKN
10 0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06 0.710 1.000 19 1999 2016
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.060 1.000 6 2001 2019
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.040 0.750 4 1997 2002
dbSNP: rs28938172
rs28938172
PARK7
7 0.790 0.080 1 7984981 missense variant T/C snv 0.030 1.000 3 2008 2012
dbSNP: rs137853054
rs137853054
PRKN
4 0.882 0.160 6 161973317 missense variant G/A;C;T snv 3.7E-04; 4.0E-06; 8.0E-06 0.020 1.000 2 2006 2017
dbSNP: rs34778348
rs34778348
LRRK2 ; LOC105369736
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.020 1.000 2 2007 2008
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 2006 2014
dbSNP: rs74315351
rs74315351
PARK7
6 0.807 0.080 1 7962863 missense variant G/A snv 0.020 1.000 2 2009 2010
dbSNP: rs751037529
rs751037529
PRKN
3 0.925 0.040 6 161785793 missense variant C/G snv 1.2E-05 0.020 1.000 2 2014 2019
dbSNP: rs774005786
rs774005786
PARK7
8 0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05 0.020 1.000 2 2004 2010
dbSNP: rs104893875
rs104893875
SNCA
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1064793345
rs1064793345
PTEN
11 0.752 0.240 10 87961039 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs1171614044
rs1171614044
PLA2G6 ; BAIAP2L2
1 1.000 0.040 22 38112243 missense variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1189803871
rs1189803871
PRKN
1 1.000 0.040 6 161548929 synonymous variant G/A;C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1345514
rs1345514
EN2
1 1.000 0.040 7 155456455 intron variant C/T snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs139093920
rs139093920
PLA2G6 ; BAIAP2L2
1 1.000 0.040 22 38112241 missense variant C/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs150562946
rs150562946
PRKN
3 0.882 0.040 6 161785877 missense variant G/A snv 4.2E-04 4.5E-04 0.010 1.000 1 2006 2006
dbSNP: rs1801334
rs1801334
PRKN
4 0.851 0.040 6 161360193 missense variant C/T snv 2.5E-02 2.5E-02 0.010 1.000 1 2003 2003
dbSNP: rs199935023
rs199935023
PLA2G6
4 0.882 0.040 22 38132917 missense variant C/A;T snv 4.9E-05; 3.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs2281983
rs2281983
PITX3
4 0.851 0.080 10 102231624 missense variant G/A;C;T snv 0.62; 8.3E-06 0.010 1.000 1 2011 2011
dbSNP: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs3738136
rs3738136
PINK1 ; PINK1-AS
3 0.882 0.040 1 20645618 missense variant G/A snv 9.2E-02 5.0E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs3758549
rs3758549
GBF1
3 0.882 0.040 10 102244438 upstream gene variant G/A snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs3808330
rs3808330
EN2
1 1.000 0.040 7 155463312 3 prime UTR variant T/C snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs398122403
rs398122403
SYNJ1
11 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018