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: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.070 1.000 7 2014 2018
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: 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: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.020 1.000 2 1999 2018
dbSNP: rs143624519
rs143624519
MAPT
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.030 1.000 3 2012 2019
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs242557
rs242557
MAPT
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.860 1.000 8 2010 2019
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: rs76980269
rs76980269
NOS1
10 0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05 0.010 1.000 1 2008 2008
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
dbSNP: rs63749855
rs63749855
MAPT
8 0.790 0.200 17 46014271 missense variant T/G snv 0.010 1.000 1 2011 2011
dbSNP: rs72824905
rs72824905
PLCG2
6 0.827 0.200 16 81908423 missense variant C/G;T snv 5.2E-03 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: rs8070723
rs8070723
MAPT
7 0.851 0.240 17 46003698 intron variant A/G snv 0.18 0.810 1.000 2 2011 2016
dbSNP: rs4239633
rs4239633
UNC13A
4 0.851 0.240 19 17631660 intron variant C/T snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs762046989
rs762046989
MAPT
5 0.851 0.200 17 45971867 missense variant C/G snv 8.0E-06 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: rs1026683055
rs1026683055
GRN
3 0.882 0.200 17 44351429 missense variant C/T snv 1.6E-05 1.5E-05 0.010 1.000 1 2016 2016
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: rs1816
rs1816
KANSL1
3 0.882 0.200 17 46199252 intron variant A/G snv 0.14 0.010 1.000 1 2002 2002
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: rs2471738
rs2471738
MAPT ; STH
4 0.882 0.160 17 45998697 intron variant C/T snv 0.18 0.010 1.000 1 2017 2017