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: rs104893768
rs104893768
RHO
11 0.807 0.080 3 129528801 missense variant C/A snv 0.020 1.000 2 2002 2014
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2002 2003
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2002 2003
dbSNP: rs63751438
rs63751438
MAPT
16 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2014 2019
dbSNP: rs104893922
rs104893922
SMN1 ; SMN2
3 0.925 0.080 5 70946157 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1178466848
rs1178466848
PRNP
4 0.925 0.120 20 4699785 missense variant G/A snv 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs119467003
rs119467003
TDP1
4 0.882 0.080 14 89993420 missense variant A/G snv 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs121909329
rs121909329
VCP
11 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs1264519280
rs1264519280
KHDRBS1
2 1.000 0.040 1 32014083 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1272951905
rs1272951905
MTHFSD
3 0.925 0.160 16 86532210 missense variant C/T snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1428103360
rs1428103360
SMN2
2 1.000 0.040 5 70070732 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs1481950
rs1481950
ATP6V1H
2 1.000 0.080 8 53777725 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs2275294
rs2275294
ZNF512B
3 0.925 0.080 20 63962894 intron variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs2435200
rs2435200
MAPT
5 0.925 0.080 17 45994485 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs2435211
rs2435211
MAPT
1 17 45985878 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs267606900
rs267606900
MTPAP
2 1.000 10 30313926 missense variant T/C snv 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs35801418
rs35801418
LRRK2
7 0.827 0.120 12 40321114 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs371557337
rs371557337
DCTN4
2 1.000 0.040 5 150733475 start lost T/C;G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3857059
rs3857059
SNCA
2 1.000 0.040 4 89754087 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs407135
rs407135
SLC11A2
3 0.925 0.120 12 51017570 intron variant G/T snv 0.74 0.010 1.000 1 2011 2011
dbSNP: rs431905511
rs431905511
SNCA
9 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2015 2015