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: rs1450426641
rs1450426641
GBA
4 0.851 0.160 1 155235820 missense variant A/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs74315352
rs74315352
PARK7
6 0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs9347683
rs9347683
PRKN ; PACRG
3 0.882 0.120 6 162728023 5 prime UTR variant A/C;G snv 0.020 1.000 2 2007 2011
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
dbSNP: rs1048230
rs1048230
SLC11A2
5 0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15 0.010 1.000 1 2011 2011
dbSNP: rs387907571
rs387907571
DNAJC13
6 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 0.800 1.000 1 2014 2014
dbSNP: rs62063857
rs62063857
MAPT ; STH
3 0.882 0.120 17 45999299 missense variant A/G snv 0.14 0.15 0.010 1.000 1 2015 2015
dbSNP: rs72554080
rs72554080
GIGYF2
3 0.925 0.040 2 232747740 missense variant A/G snv 2.6E-04 3.2E-04 0.010 1.000 1 2009 2009
dbSNP: rs80356718
rs80356718
TARDBP
5 0.827 0.120 1 11022209 missense variant A/G snv 7.6E-05 4.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs7311174
rs7311174
NCAPD2
1 1.000 12 6526401 intron variant A/T snv 0.75 0.79 0.010 1.000 1 2014 2014
dbSNP: rs1557901552
rs1557901552
GBA
1 1.000 1 155235775 missense variant A/T snv 0.700 0
dbSNP: rs63751392
rs63751392
MAPT
2 0.925 0.120 17 46010371 inframe deletion ATA/- delins 0.700 0
dbSNP: rs1130214
rs1130214
AKT1
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs80356769
rs80356769
GBA
8 0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 0.700 0
dbSNP: rs7308720
rs7308720
LRRK2
7 0.790 0.120 12 40263898 missense variant C/A;G snv 4.0E-06; 8.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs368134308
rs368134308
PRKN
4 0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04 0.700 1.000 4 2003 2018
dbSNP: rs33939927
rs33939927
LRRK2
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.710 1.000 2 2007 2016
dbSNP: rs121917767
rs121917767
UCHL1
6 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs72480422
rs72480422
PRKN
2 0.925 0.040 6 161785805 missense variant C/A;T snv 4.0E-06; 1.6E-04 0.700 1.000 4 2003 2018
dbSNP: rs145242123
rs145242123
DNAJC13
1 1.000 3 132522838 missense variant C/A;T snv 4.1E-06; 1.5E-03 0.700 1.000 2 2014 2015
dbSNP: rs1272596579
rs1272596579
TMEM230
1 1.000 20 5112983 missense variant C/A;T snv 6.7E-06; 1.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs2242446
rs2242446
SLC6A2
9 0.776 0.080 16 55656513 5 prime UTR variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs764786986
rs764786986
TMEM230
1 1.000 20 5100921 missense variant C/A;T snv 4.0E-06; 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs797906
rs797906
GLIS1
2 0.925 0.040 1 53725022 intron variant C/A;T snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs104886460
rs104886460
GBA
8 0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 0