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: rs1133763
rs1133763
CCL8
4 0.882 0.200 17 34320812 missense variant A/C snv 0.21 0.15 0.010 1.000 1 2009 2009
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: 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: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.040 1.000 4 2011 2015
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs267607102
rs267607102
TARDBP
5 0.851 0.120 1 11022196 missense variant A/G snv 0.010 1.000 1 2018 2018
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: rs752076094
rs752076094
FUS
2 0.925 0.120 16 31185175 missense variant A/G snv 8.4E-06 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs80356717
rs80356717
TARDBP
5 0.851 0.120 1 11018836 missense variant A/G 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: 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: 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: rs741810
rs741810
FUS
2 0.925 0.120 16 31182621 synonymous variant C/A;G;T snv 0.32; 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
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: 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: 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
dbSNP: rs750444386
rs750444386
NOS1
6 0.807 0.360 12 117268082 synonymous variant C/A;T snv 4.0E-06; 5.6E-05 0.010 1.000 1 2009 2009
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: rs753009660
rs753009660
UBQLN2
1 1.000 0.120 X 56564910 missense variant C/G snv 2.2E-05 3.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2016 2016
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: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.050 1.000 5 2008 2019
dbSNP: rs5848
rs5848
GRN ; FAM171A2
17 0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41 0.040 0.750 4 2009 2015
dbSNP: rs1052352
rs1052352
FUS
2 0.925 0.120 16 31183958 synonymous variant C/T snv 0.53 0.45 0.010 1.000 1 2010 2010
dbSNP: rs10814083
rs10814083
KIF24
3 0.882 0.160 9 34256349 synonymous variant C/T snv 0.40 0.34 0.010 1.000 1 2010 2010