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: 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: 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: 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: rs4859147
rs4859147
DCUN1D1
1 1.000 0.120 3 182964065 intron variant T/C snv 0.56 0.48 0.010 1.000 1 2009 2009
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: 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: rs750810467
rs750810467
GRN
1 1.000 0.120 17 44351420 missense variant G/A;C snv 4.8E-05; 4.0E-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: 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: 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: 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: rs533451404
rs533451404
GRN
2 0.925 0.120 17 44349267 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2016 2016
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: 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: 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: 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
dbSNP: rs63750092
rs63750092
MAPT
3 0.882 0.120 17 46014277 missense variant A/T snv 0.010 1.000 1 2014 2014
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: 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: 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: 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