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: 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: 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: rs74315356
rs74315356
PINK1 ; PINK1-AS
3 0.925 0.040 1 20649054 stop gained G/A snv 4.0E-06 1.4E-05 0.030 1.000 3 2006 2008
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: 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: 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: rs1417802320
rs1417802320
PARK7
1 1 7962861 missense variant A/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1426868527
rs1426868527
PINK1 ; MIR6084
3 1 20633841 missense variant G/A;T snv 0.010 1.000 1 2016 2016
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: rs28940285
rs28940285
PINK1 ; PINK1-AS
2 1.000 0.040 1 20645640 missense variant T/C snv 1.6E-05 3.5E-05 0.010 1.000 1 2007 2007
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: rs45467995
rs45467995
PINK1 ; PINK1-AS
1 1 20649062 missense variant G/A snv 0.010 1.000 1 2008 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 0.010 1.000 1 2008 2008
dbSNP: rs71653619
rs71653619
PARK7
4 1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs74315360
rs74315360
PINK1
3 0.925 0.040 1 20638104 missense variant C/A snv 0.010 1.000 1 2017 2017
dbSNP: rs774005786
rs774005786
PARK7
8 0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05 0.010 1.000 1 2008 2008
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: 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: rs756677845
rs756677845
PINK1
1 1 20638074 frameshift variant G/- del 0.700 0
dbSNP: rs886039227
rs886039227
DCTN1
4 0.925 0.200 2 74378123 missense variant A/C snv 0.020 1.000 2 2014 2018
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: rs781442277
rs781442277
CENPO ; PTRHD1 ; LOC105369164
3 1.000 0.040 2 24793223 missense variant C/T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017
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: rs762472005
rs762472005
SACM1L
5 0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06 0.020 1.000 2 2013 2016
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