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: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.900 1.000 39 1993 2016
dbSNP: rs121912443
rs121912443
15 0.732 0.160 21 31663857 missense variant A/G snv 0.890 1.000 40 1993 2014
dbSNP: rs74315452
rs74315452
12 0.732 0.160 21 31667356 missense variant T/C snv 0.810 1.000 24 1993 2012
dbSNP: rs80265967
rs80265967
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.800 1.000 20 1993 2009
dbSNP: rs1475170339
rs1475170339
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2002 2009
dbSNP: rs74315431
rs74315431
15 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.020 1.000 2 2009 2017
dbSNP: rs121912431
rs121912431
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.890 0.969 32 1993 2012
dbSNP: rs3849942
rs3849942
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs121909668
rs121909668
FUS
8 0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05 0.030 1.000 3 2010 2014
dbSNP: rs121912442
rs121912442
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.830 1.000 36 1993 2012
dbSNP: rs121912452
rs121912452
6 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.810 1.000 24 1993 2012
dbSNP: rs4987023
rs4987023
6 0.807 0.120 6 159692661 missense variant C/T snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs121912436
rs121912436
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.870 1.000 30 1993 2013
dbSNP: rs121912433
rs121912433
7 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.800 1.000 23 1993 2012
dbSNP: rs121909342
rs121909342
5 0.827 0.200 2 74378104 missense variant C/G;T snv 0.700 1.000 7 2003 2016
dbSNP: rs12608932
rs12608932
5 0.827 0.080 19 17641880 intron variant A/C snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs139550538
rs139550538
IDE
5 0.827 0.080 10 92524312 intron variant T/A snv 1.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs2412208
rs2412208
5 0.827 0.080 1 7032722 intron variant T/G snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs34517613
rs34517613
5 0.827 0.080 17 28283226 intron variant C/T snv 9.1E-02 0.700 1.000 1 2014 2014
dbSNP: rs35714695
rs35714695
5 0.827 0.080 17 28392769 intron variant G/A;T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs3849943
rs3849943
5 0.827 0.080 9 27543384 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs616147
rs616147
5 0.827 0.080 3 39492990 intron variant A/G snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs886041390
rs886041390
FUS
5 0.827 0.080 16 31191431 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121912437
rs121912437
5 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.820 1.000 25 1993 2017
dbSNP: rs121912439
rs121912439
4 0.851 0.080 21 31667320 missense variant A/G snv 0.810 1.000 24 1993 2012