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: 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: rs10475878
rs10475878
WWC1
1 1.000 5 168363199 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs12678719
rs12678719
ZFPM2
2 1.000 8 105503826 intron variant C/G snv 0.37 0.010 1.000 1 2012 2012
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: rs144863268
rs144863268
SLC11A2
1 1.000 12 50992234 missense variant G/T snv 2.2E-03 1.9E-03 0.010 1.000 1 2011 2011
dbSNP: rs2072374
rs2072374
NCAPD2
1 1.000 12 6528679 splice region variant T/C snv 0.74 0.79 0.010 1.000 1 2014 2014
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: 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: rs1056737920
rs1056737920
TMEM230
1 1.000 20 5109345 missense variant T/C snv 1.4E-05 0.700 0
dbSNP: rs1557901552
rs1557901552
GBA
1 1.000 1 155235775 missense variant A/T snv 0.700 0
dbSNP: rs747427602
rs747427602
PRKN
1 1.000 6 161785885 missense variant C/A;T snv 1.6E-05 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: rs766013346
rs766013346
DNAJC13
1 1.000 3 132492587 missense variant G/A;T snv 1.6E-05 0.700 0
dbSNP: rs150562946
rs150562946
PRKN
3 0.882 0.040 6 161785877 missense variant G/A snv 4.2E-04 4.5E-04 0.700 1.000 4 2003 2018
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: 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: rs1375532403
rs1375532403
CARD8
2 0.925 0.040 19 48230930 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2498799
rs2498799
AKT1
2 0.925 0.040 14 104773557 synonymous variant C/T snv 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: 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: rs763222239
rs763222239
EIF4G1
5 0.827 0.040 3 184322862 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
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: rs9697983
rs9697983
GLUD2 ; LOC105373328
2 0.925 0.040 X 121049176 missense variant T/G snv 2.7E-02 3.2E-02 0.700 0
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