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: rs4795541
rs4795541
7 0.807 0.200 17 30237299 upstream gene variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs4859147
rs4859147
1 1.000 0.120 3 182964065 intron variant T/C snv 0.56 0.48 0.010 1.000 1 2009 2009
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
2 1.000 0.120 17 49511972 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2012 2012
dbSNP: rs63750092
rs63750092
3 0.882 0.120 17 46014277 missense variant A/T snv 0.010 1.000 1 2014 2014
dbSNP: rs63750096
rs63750096
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
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
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
5 0.827 0.160 3 87253472 stop gained C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs63750424
rs63750424
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
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
dbSNP: rs63751294
rs63751294
GRN
6 0.827 0.120 17 44352404 stop gained C/T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs646776
rs646776
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
1 1.000 0.120 9 33256181 intron variant T/G snv 0.39 0.010 1.000 1 2011 2011
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: rs747019990
rs747019990
4 0.851 0.120 20 4699336 missense variant C/T snv 3.6E-05 7.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs750444386
rs750444386
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: 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: 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: rs753009660
rs753009660
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: rs753070659
rs753070659
GRN
4 0.851 0.160 17 44350481 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2008 2008