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: rs1143633
rs1143633
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs116920450
rs116920450
1 1.000 0.040 17 50575769 missense variant G/A;T snv 6.8E-03; 6.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1186902
rs1186902
2 1.000 0.040 6 89217243 missense variant T/C snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs12200969
rs12200969
1 1.000 0.040 6 89217247 missense variant T/C snv 0.31 0.37 0.010 1.000 1 2011 2011
dbSNP: rs12720208
rs12720208
3 0.925 0.040 8 16992890 3 prime UTR variant G/A snv 5.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs13313467
rs13313467
1 1.000 0.040 15 77673826 intron variant C/A snv 0.28 0.010 1.000 1 2010 2010
dbSNP: rs138287627
rs138287627
1 1.000 0.040 22 29297943 missense variant C/T snv 6.8E-05 9.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs138607170
rs138607170
4 0.882 0.080 3 38925454 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs146603794
rs146603794
1 1.000 0.040 6 89198164 missense variant A/G snv 5.2E-04 2.1E-04 0.010 1.000 1 2011 2011
dbSNP: rs1472351089
rs1472351089
1 1.000 0.040 1 107480764 missense variant G/A snv 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1521179
rs1521179
1 1.000 0.040 1 151800911 3 prime UTR variant G/A snv 0.10 5.3E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs16976358
rs16976358
6 0.827 0.080 18 42611606 intron variant T/C snv 1.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1721100
rs1721100
2 0.925 0.040 8 16992989 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs17550360
rs17550360
1 1.000 0.040 8 16993092 missense variant C/A;T snv 4.0E-05; 5.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs177008
rs177008
1 1.000 0.040 X 125567397 intergenic variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1800435
rs1800435
7 0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs186547381
rs186547381
FUS
2 0.925 0.040 16 31190398 missense variant C/T snv 1.2E-04 1.6E-04 0.010 1.000 1 2013 2013
dbSNP: rs199608047
rs199608047
1 1.000 0.040 12 57572647 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs2071747
rs2071747
4 0.851 0.120 22 35381192 missense variant G/C snv 4.3E-02 4.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs2270363
rs2270363
3 0.882 0.080 16 4476291 5 prime UTR variant A/G snv 0.74 0.010 1.000 1 2017 2017
dbSNP: rs2271397
rs2271397
1 1.000 0.040 15 77615433 synonymous variant T/A;C snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs267606832
rs267606832
FUS
3 0.882 0.040 16 31185061 missense variant C/G;T snv 1.3E-04; 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs282129
rs282129
1 1.000 0.040 6 89257779 missense variant G/A snv 0.25 0.31 0.010 1.000 1 2011 2011
dbSNP: rs2924835
rs2924835
1 1.000 0.040 15 101066684 missense variant G/A snv 0.31 0.25 0.010 < 0.001 1 2018 2018