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: 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
dbSNP: rs34090186
rs34090186
3 0.882 0.080 16 89919458 missense variant G/A snv 9.6E-04 2.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs34594498
rs34594498
2 0.925 0.040 12 40252984 missense variant C/T snv 4.9E-04 2.4E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2006 2006
dbSNP: rs34778348
rs34778348
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.010 < 0.001 1 2008 2008
dbSNP: rs35870237
rs35870237
9 0.763 0.120 12 40340404 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs369753226
rs369753226
1 1.000 0.040 1 107480824 missense variant G/A snv 6.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs3758549
rs3758549
3 0.882 0.040 10 102244438 upstream gene variant G/A snv 0.14 0.010 < 0.001 1 2017 2017
dbSNP: rs3810651
rs3810651
4 0.925 0.080 X 152652814 missense variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs4919621
rs4919621
4 0.851 0.080 10 102238914 intron variant A/T snv 0.66 0.010 < 0.001 1 2017 2017
dbSNP: rs61746299
rs61746299
1 1.000 0.040 1 151801375 missense variant T/A;C snv 9.9E-02; 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2010 2010
dbSNP: rs7033345
rs7033345
3 0.882 0.080 9 28717575 intergenic variant T/C;G snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs7133914
rs7133914
7 0.790 0.120 12 40309109 missense variant G/A;T snv 8.5E-02; 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs7308720
rs7308720
7 0.790 0.120 12 40263898 missense variant C/A;G snv 4.0E-06; 8.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs748723559
rs748723559
1 1.000 0.040 16 75630480 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019