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: 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: 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: rs1163763
rs1163763 		2 0.925 0.120 12 17567834 intron variant G/T snv 0.24 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: rs1431475678
rs1431475678
BDNF ; BDNF-AS
1 1.000 0.120 11 27658555 missense variant G/C snv 7.0E-06 0.010 1.000 1 2012 2012
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: 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: rs63750355
rs63750355
CHMP2B
5 0.827 0.160 3 87253472 stop gained C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.010 1.000 1 2010 2010
dbSNP: rs706118
rs706118
BAG1
1 1.000 0.120 9 33256181 intron variant T/G snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs7967622
rs7967622
HNRNPA1
1 1.000 0.120 12 54284196 intron variant C/T snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs80356717
rs80356717
TARDBP
5 0.851 0.120 1 11018836 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs763841075
rs763841075
GRN
4 0.851 0.120 17 44350293 missense variant T/C snv 1.8E-04 1.1E-04 0.020 1.000 2 2014 2018
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: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 1.000 2 2007 2008
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: 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: 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: 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: 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: 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: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2012 2012