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: rs9652490
rs9652490
4 0.851 0.080 15 77671545 intron variant A/G snv 0.28 0.900 0.714 14 2009 2016
dbSNP: rs3794087
rs3794087
6 0.851 0.120 11 35308068 intron variant G/T snv 0.20 0.900 0.500 10 2012 2018
dbSNP: rs10937625
rs10937625
1 1.000 0.040 4 5126432 intron variant T/C snv 0.24 0.730 1.000 3 2016 2018
dbSNP: rs17590046
rs17590046
1 1.000 0.040 4 24360918 intergenic variant T/C snv 0.18 0.730 0.667 3 2016 2018
dbSNP: rs12764057
rs12764057
1 1.000 0.040 10 67085957 intron variant T/G snv 0.35 0.720 0.667 3 2016 2018
dbSNP: rs387907571
rs387907571
6 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 0.710 1.000 1 2015 2015
dbSNP: rs10109552
rs10109552
1 1.000 0.040 8 18451300 intergenic variant T/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs4690686
rs4690686
1 1.000 0.040 4 176321808 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6431308
rs6431308
1 1.000 0.040 2 234898985 intron variant A/C snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs6675307
rs6675307
1 1.000 0.040 1 90181314 intergenic variant G/A snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs893787
rs893787
1 1.000 0.040 2 12046209 intron variant T/C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.060 0.500 6 2006 2016
dbSNP: rs387907274
rs387907274
FUS
2 0.925 0.040 16 31189158 stop gained C/T snv 0.050 1.000 5 2013 2016
dbSNP: rs11856808
rs11856808
5 0.827 0.120 15 77680428 intron variant C/T snv 0.42 0.030 0.667 3 2010 2012
dbSNP: rs1051308
rs1051308
3 0.882 0.080 16 4510300 3 prime UTR variant G/A snv 0.54 0.020 0.500 2 2015 2017
dbSNP: rs1052553
rs1052553
8 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 0.020 0.500 2 2014 2016
dbSNP: rs10822974
rs10822974
1 1.000 0.040 10 67090661 intron variant A/G;T snv 0.020 0.500 2 2017 2018
dbSNP: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.020 1.000 2 2008 2010
dbSNP: rs2071746
rs2071746
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.020 1.000 2 2015 2017
dbSNP: rs33949390
rs33949390
9 0.776 0.160 12 40320043 missense variant G/A;C;T snv 1.6E-04; 1.9E-03; 8.0E-06 0.020 0.500 2 2015 2018
dbSNP: rs34410987
rs34410987
3 0.882 0.040 12 40283897 missense variant C/T snv 7.4E-04 2.2E-04 0.020 0.500 2 2007 2018
dbSNP: rs72470545
rs72470545
6 0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03 0.020 1.000 2 2014 2017
dbSNP: rs7903491
rs7903491
1 1.000 0.040 10 67157406 intron variant A/G snv 0.63 0.020 1.000 2 2017 2018
dbSNP: rs10812774
rs10812774
2 0.925 0.040 9 28294233 intron variant T/C snv 0.49 0.010 1.000 1 2011 2011
dbSNP: rs1129647
rs1129647
3 0.882 0.240 5 161854239 synonymous variant T/C snv 0.26 0.24 0.010 1.000 1 2006 2006