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: 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: rs1163763
rs1163763
2 0.925 0.120 12 17567834 intron variant G/T snv 0.24 0.010 1.000 1 2009 2009
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: rs1415210991
rs1415210991
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: rs1431475678
rs1431475678
1 1.000 0.120 11 27658555 missense variant G/C snv 7.0E-06 0.010 1.000 1 2012 2012
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: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs1133763
rs1133763
4 0.882 0.200 17 34320812 missense variant A/C snv 0.21 0.15 0.010 1.000 1 2009 2009
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: rs63750355
rs63750355
5 0.827 0.160 3 87253472 stop gained C/T 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: rs1417841099
rs1417841099
1 1.000 0.120 19 852917 missense variant C/G snv 4.6E-06 0.010 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs5848
rs5848
17 0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41 0.040 0.750 4 2009 2015
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2016 2016