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: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.050 1.000 5 2008 2019
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 2017 2019
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 1.000 2 2015 2018
dbSNP: rs121909335
rs121909335
VCP
9 0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1319062081
rs1319062081
SOD1 ; SCAF4
2 0.925 0.120 21 31668537 stop gained G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1390191775
rs1390191775
UBQLN2
1 1.000 0.120 X 56564879 missense variant A/C;G snv 5.5E-06; 5.5E-06 0.010 1.000 1 2013 2013
dbSNP: rs1415210991
rs1415210991
BDNF
1 1.000 0.120 11 27701003 5 prime UTR variant G/C snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs1417841099
rs1417841099
ELANE
1 1.000 0.120 19 852917 missense variant C/G snv 4.6E-06 0.010 1.000 1 2016 2016
dbSNP: rs17350674
rs17350674
KIF24
1 1.000 0.120 9 34306412 stop gained C/A;T snv 0.16; 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2009 2009
dbSNP: rs2234253
rs2234253
TREM2 ; LOC105375056
5 0.827 0.120 6 41161367 missense variant G/A;C;T snv 1.9E-04; 1.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs267607102
rs267607102
TARDBP
5 0.851 0.120 1 11022196 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs3173615
rs3173615
TMEM106B
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2020 2020
dbSNP: rs4795541
rs4795541
SLC6A4 ; LOC105371720
7 0.807 0.200 17 30237299 upstream gene variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs536551654
rs536551654
NGFR ; LOC100288866
2 1.000 0.120 17 49511972 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs63750092
rs63750092
MAPT
3 0.882 0.120 17 46014277 missense variant A/T snv 0.010 1.000 1 2014 2014
dbSNP: rs63750096
rs63750096
MAPT
1 1.000 0.120 17 45996557 missense variant G/A;T snv 6.3E-04 0.010 1.000 1 2013 2013
dbSNP: rs63750129
rs63750129
MAPT
4 0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs63750349
rs63750349
MAPT
5 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs63750355
rs63750355
CHMP2B
5 0.827 0.160 3 87253472 stop gained C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs63750541
rs63750541
GRN
4 0.851 0.160 17 44351586 missense variant G/A;C snv 8.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs63751180
rs63751180
GRN
3 0.882 0.120 17 44352087 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs63751243
rs63751243
GRN
4 0.882 0.160 17 44349190 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2011 2011