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: rs1555743003
rs1555743003
ASXL3
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs63750687
rs63750687
PSEN1
33 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1555358382
rs1555358382
GCH1
6 14 54844115 stop gained G/A snv 0.700 0
dbSNP: rs1555507479
rs1555507479
GNAO1
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0
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: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.700 0
dbSNP: rs778543124
rs778543124
XPA
35 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
dbSNP: rs797045032
rs797045032
CLCN1
11 0.827 0.280 7 143321720 missense variant GG/TC mnv 0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
37 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
dbSNP: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 1.000 2 2007 2010
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2003 2003
dbSNP: rs11868035
rs11868035
SREBF1 ; RAI1
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.010 1.000 1 2014 2014
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs199474750
rs199474750
NF1
3 1.000 0.120 17 31258502 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs199476305
rs199476305
TPM1
2 1.000 0.040 15 63044096 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs200660418
rs200660418
LRRK2
3 1.000 0.040 12 40310449 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs28933383
rs28933383
KCNA1
8 0.851 0.120 12 4912055 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3173615
rs3173615
TMEM106B
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs356220
rs356220
SNCA ; LOC105377329
3 0.925 0.080 4 89720189 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs363371
rs363371 		5 0.882 0.120 10 117226885 TF binding site variant G/A snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs431905511
rs431905511
SNCA
9 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs730881131
rs730881131
TPM1
2 1.000 0.040 15 63057036 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs80338792
rs80338792
SCN4A
7 0.827 0.160 17 63943846 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs868694193
rs868694193
REN
2 1.000 0.120 1 204161355 missense variant C/T snv 4.1E-06 0.010 1.000 1 2017 2017