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: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2016 2016
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 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
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: 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 2005 2005
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: 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: rs104886460
rs104886460
GBA
8 0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 0
dbSNP: rs1064651
rs1064651
GBA
13 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.700 0
dbSNP: rs1237637353
rs1237637353
GBA
2 0.925 0.120 1 155237579 splice acceptor variant C/G snv 4.0E-06 0.700 0
dbSNP: rs1557901552
rs1557901552
GBA
1 1.000 1 155235775 missense variant A/T snv 0.700 0
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: rs75671029
rs75671029
GBA
1 1.000 1 155235256 missense variant C/T snv 5.2E-04 2.3E-03 0.700 0
dbSNP: rs75822236
rs75822236
GBA
10 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.700 0
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.700 0
dbSNP: rs78973108
rs78973108
GBA
8 0.776 0.160 1 155237453 missense variant C/T snv 2.8E-05 4.2E-05 0.700 0
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: rs80356771
rs80356771
GBA
8 0.776 0.160 1 155235196 missense variant G/A;T snv 7.2E-05; 4.0E-06 0.700 0
dbSNP: rs72470545
rs72470545
HTRA2 ; LOXL3
6 0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03 0.010 1.000 1 2016 2016
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: 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: rs146930051
rs146930051
DNAJC13
1 1.000 3 132467269 missense variant G/T snv 2.0E-05 4.2E-05 0.700 1.000 2 2014 2015
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 2013 2013
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