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: 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: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.070 1.000 7 2014 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: 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: 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: rs1038579230
rs1038579230
VCP
3 0.882 0.200 9 35067913 missense variant C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10675541
rs10675541
MOBP
1 1.000 0.120 3 39468795 intron variant -/CA delins 0.700 1.000 1 2018 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: 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: 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: rs1425322249
rs1425322249
LNPEP
1 1.000 0.120 5 96979369 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs147124286
rs147124286
SP1
1 1.000 0.120 12 53394218 intron variant -/A delins 0.18 0.700 1.000 1 2018 2018
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: 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: 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: rs2142991
rs2142991 		1 1.000 0.120 10 42845657 intergenic variant C/G;T snv 0.800 1.000 1 2011 2011
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
dbSNP: rs35740963
rs35740963
RUNX2
1 1.000 0.120 6 45531876 intron variant -/T delins 0.700 1.000 1 2018 2018
dbSNP: rs368453549
rs368453549
BRD4
1 1.000 0.120 19 15272936 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
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: 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: 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