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: rs1595014
rs1595014 		3 0.882 0.120 7 12148903 intergenic variant T/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs1205185774
rs1205185774
AHSA1
4 0.882 0.120 14 77469161 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs63750066
rs63750066
APP
9 0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs63751294
rs63751294
GRN
6 0.827 0.120 17 44352404 stop gained C/T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs9897526
rs9897526
GRN
2 0.925 0.120 17 44349572 non coding transcript exon variant G/A;C snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs5848
rs5848
GRN ; FAM171A2
17 0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41 0.020 1.000 2 2008 2016
dbSNP: rs1189501362
rs1189501362
GSK3B
4 0.882 0.120 3 119863583 missense variant G/A snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs866604606
rs866604606
MAPK1
4 0.882 0.120 22 21772907 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.800 1.000 11 2000 2019
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.800 1.000 11 1998 2019
dbSNP: rs63751438
rs63751438
MAPT
16 0.776 0.120 17 46010388 missense variant C/T snv 0.080 1.000 8 1999 2017
dbSNP: rs63750129
rs63750129
MAPT
4 0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06 0.820 1.000 6 1999 2008
dbSNP: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.760 1.000 6 2000 2019
dbSNP: rs63750512
rs63750512
MAPT
6 0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05 0.820 1.000 6 1999 2002
dbSNP: rs63750635
rs63750635
MAPT
5 0.851 0.120 17 46014286 missense variant C/T snv 0.810 1.000 5 1999 2002
dbSNP: rs63750349
rs63750349
MAPT
5 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.030 1.000 3 2003 2007
dbSNP: rs63751165
rs63751165
MAPT
3 0.925 0.120 17 46010401 missense variant G/A;T snv 0.030 1.000 3 1999 2005
dbSNP: rs143624519
rs143624519
MAPT
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.020 1.000 2 2014 2018
dbSNP: rs63750376
rs63750376
MAPT
7 0.827 0.120 17 45996657 missense variant G/T snv 0.020 1.000 2 2003 2005
dbSNP: rs63750416
rs63750416
MAPT
7 0.851 0.120 17 46010373 missense variant A/C snv 0.020 1.000 2 2001 2017
dbSNP: rs1012826460
rs1012826460
MAPT
2 0.925 0.120 17 45971888 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1182182524
rs1182182524
MAPT
3 0.882 0.120 17 45983724 missense variant T/G snv 1.4E-05 0.010 1.000 1 2016 2016