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: 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: rs11568563
rs11568563
SLCO1A2
2 0.925 0.240 12 21304500 missense variant T/G snv 4.5E-02 4.4E-02 0.810 1.000 2 2011 2012
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: 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: rs2142991
rs2142991 		1 1.000 0.120 10 42845657 intergenic variant C/G;T snv 0.800 1.000 1 2011 2011
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: rs6852535
rs6852535 		1 1.000 0.120 4 122557561 intergenic variant G/A snv 0.24 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: 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: rs147124286
rs147124286
SP1
1 1.000 0.120 12 53394218 intron variant -/A delins 0.18 0.700 1.000 1 2018 2018
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: rs35740963
rs35740963
RUNX2
1 1.000 0.120 6 45531876 intron variant -/T delins 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: rs621042
rs621042
PIK3C2G
1 1.000 0.120 12 18636073 intron variant C/A snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs7966334
rs7966334
SLCO1A2
1 1.000 0.120 12 21314281 intron variant C/G snv 0.95 0.700 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: 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: 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: 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