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: rs1411478
rs1411478
STX6
3 0.925 0.120 1 180993146 intron variant A/G snv 0.56 0.810 1.000 2 2011 2013
dbSNP: rs6687758
rs6687758 		11 0.763 0.200 1 221991606 regulatory region variant A/G snv 0.20 0.810 1.000 2 2011 2018
dbSNP: rs114573015
rs114573015 		1 1.000 0.120 1 85137368 downstream gene variant A/G snv 1.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs12125383
rs12125383 		1 1.000 0.120 1 221995092 regulatory region variant G/A snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs564309
rs564309
TRIM11 ; MIR6742
1 1.000 0.120 1 228397861 intron variant C/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs57113693
rs57113693
STX6
1 1.000 0.120 1 180983158 intron variant C/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs566433112
rs566433112
DCTN1
1 1.000 0.120 2 74378112 missense variant T/C snv 1.6E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs6547705
rs6547705
CD8B ; LOC105374846
1 1.000 0.120 2 86817193 intron variant G/A snv 0.83 0.800 1.000 1 2011 2011
dbSNP: rs7571971
rs7571971
EIF2AK3
2 1.000 0.120 2 88595833 non coding transcript exon variant T/C snv 0.70 0.77 0.800 1.000 1 2011 2011
dbSNP: rs886039227
rs886039227
DCTN1
4 0.925 0.200 2 74378123 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1768208
rs1768208
MOBP
4 0.851 0.200 3 39481512 intron variant T/C snv 0.76 0.830 1.000 4 2011 2016
dbSNP: rs10675541
rs10675541
MOBP
1 1.000 0.120 3 39468795 intron variant -/CA delins 0.700 1.000 1 2018 2018
dbSNP: rs6852535
rs6852535 		1 1.000 0.120 4 122557561 intergenic variant G/A snv 0.24 0.800 1.000 1 2011 2011
dbSNP: rs1425322249
rs1425322249
LNPEP
1 1.000 0.120 5 96979369 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs137853058
rs137853058
PRKN
3 0.882 0.120 6 161973401 missense variant C/T snv 1.2E-05 0.020 1.000 2 2002 2002
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.800 1.000 1 2011 2011
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1801582
rs1801582
PRKN
3 0.925 0.120 6 161386823 missense variant C/G;T snv 0.16; 3.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs35740963
rs35740963
RUNX2
1 1.000 0.120 6 45531876 intron variant -/T delins 0.700 1.000 1 2018 2018
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs2045091
rs2045091
ASAP1
1 1.000 0.120 8 130063613 intron variant C/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs1038579230
rs1038579230
VCP
3 0.882 0.200 9 35067913 missense variant C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs13302855
rs13302855 		3 0.882 0.200 9 27595997 intergenic variant C/T snv 7.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs201795631
rs201795631
SETX
3 0.882 0.200 9 132349336 missense variant T/C;G snv 8.0E-06; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs3849942
rs3849942
C9orf72 ; LOC107987057
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.010 1.000 1 2018 2018