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: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs137852538
rs137852538
PGK1
3 0.925 0.080 X 78117385 missense variant A/T snv 0.010 1.000 1 2019 2019
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: rs3135500
rs3135500
NOD2
5 0.851 0.160 16 50732975 3 prime UTR variant G/A snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs63750072
rs63750072
MAPT
3 1.000 0.080 17 45983493 missense variant A/G snv 4.0E-02 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs63750522
rs63750522
PSEN1
8 0.827 0.120 14 73173644 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs63750577
rs63750577
PSEN1
8 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs772784579
rs772784579
GRN
2 1.000 0.040 17 44352387 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1239756674
rs1239756674
MAOA
2 1.000 0.040 X 43743818 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1290141855
rs1290141855
SLC6A2
3 1.000 0.040 16 55698539 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs542171324
rs542171324
SNCA
6 0.851 0.160 4 89828148 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs5569
rs5569
SLC6A2
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs74315360
rs74315360
PINK1
3 0.925 0.040 1 20638104 missense variant C/A snv 0.010 1.000 1 2017 2017
dbSNP: rs748705829
rs748705829
SIRT3
1 11 233109 missense variant T/C snv 8.0E-06 0.010 1.000 1 2017 2017
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: rs767543900
rs767543900
MAPT
10 0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 0.010 < 0.001 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: rs80338892
rs80338892
TH
3 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.010 1.000 1 2017 2017
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: rs1057519629
rs1057519629
TBC1D24
1 16 2498332 missense variant C/G;T snv 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs1426868527
rs1426868527
PINK1 ; MIR6084
3 1 20633841 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1555727942
rs1555727942
NOTCH3 ; MIR6795
3 0.925 0.160 19 15180807 missense variant G/A 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: rs267604921
rs267604921
MAPT
3 0.925 0.160 17 45993953 missense variant C/A;G;T snv 6.3E-05; 2.5E-04; 5.3E-06 0.010 1.000 1 2016 2016
dbSNP: rs34015634
rs34015634
LRRK2
8 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 0.010 1.000 1 2016 2016