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
42 0.645 0.280 17 46010389 missense variant C/T snv 0.040 1.000 4 2016 2019
dbSNP: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.030 1.000 3 2014 2015
dbSNP: rs5848
rs5848
17 0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41 0.030 0.667 3 2009 2013
dbSNP: rs143624519
rs143624519
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: rs34637584
rs34637584
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: 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: rs121909335
rs121909335
VCP
9 0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1319062081
rs1319062081
2 0.925 0.120 21 31668537 stop gained G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2009 2009
dbSNP: rs2234253
rs2234253
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: rs267607102
rs267607102
5 0.851 0.120 1 11022196 missense variant A/G 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: 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: 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: 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: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2018 2018
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: rs76980269
rs76980269
10 0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs80356717
rs80356717
5 0.851 0.120 1 11018836 missense variant A/G snv 0.010 1.000 1 2018 2018