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: rs10109552
rs10109552
1 1.000 0.040 8 18451300 intergenic variant T/G snv 0.69 0.700 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: rs6675307
rs6675307
1 1.000 0.040 1 90181314 intergenic variant G/A snv 0.37 0.700 1.000 1 2016 2016
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: 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: rs864309650
rs864309650
4 0.851 0.040 7 56104344 missense variant G/A snv 0.010 1.000 1 2017 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: rs12764057
rs12764057
1 1.000 0.040 10 67085957 intron variant T/G snv 0.35 0.720 0.667 3 2016 2018
dbSNP: rs10822974
rs10822974
1 1.000 0.040 10 67090661 intron variant A/G;T snv 0.020 0.500 2 2017 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: 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: 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: 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: 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: rs387907274
rs387907274
FUS
2 0.925 0.040 16 31189158 stop gained C/T snv 0.050 1.000 5 2013 2016
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: 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: rs751937417
rs751937417
FUS
2 0.925 0.040 16 31190282 missense variant G/A snv 7.6E-05 4.9E-05 0.010 1.000 1 2013 2013
dbSNP: rs766187715
rs766187715
FUS
1 1.000 0.040 16 31190102 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs914056789
rs914056789
FUS
1 1.000 0.040 16 31190983 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
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
dbSNP: rs3810651
rs3810651
4 0.925 0.080 X 152652814 missense variant A/C;T snv 0.010 1.000 1 2011 2011
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: 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