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 0.100 0.995 416 1996 2020
dbSNP: rs80265967
rs80265967
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.100 1.000 30 1995 2020
dbSNP: rs74315431
rs74315431
15 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.100 0.944 18 2006 2019
dbSNP: rs121912431
rs121912431
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.100 1.000 17 1997 2017
dbSNP: rs80356726
rs80356726
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.100 1.000 14 2011 2019
dbSNP: rs121912436
rs121912436
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.100 1.000 13 2000 2019
dbSNP: rs12608932
rs12608932
5 0.827 0.080 19 17641880 intron variant A/C snv 0.36 0.880 0.923 13 2009 2019
dbSNP: rs1475170339
rs1475170339
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.100 1.000 13 2002 2018
dbSNP: rs938050921
rs938050921
5 0.827 0.120 6 24357658 missense variant C/T snv 8.1E-06 0.100 1.000 13 2006 2020
dbSNP: rs121912443
rs121912443
15 0.732 0.160 21 31663857 missense variant A/G snv 0.100 0.917 12 1994 2017
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.636 11 2007 2016
dbSNP: rs745805222
rs745805222
7 0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05 0.100 1.000 11 2007 2018
dbSNP: rs762060740
rs762060740
6 0.827 0.080 17 44915083 missense variant G/C snv 4.0E-06 0.100 1.000 11 2005 2014
dbSNP: rs1445888481
rs1445888481
2 0.925 0.080 2 112835572 synonymous variant C/T snv 7.0E-06 0.100 1.000 10 2002 2018
dbSNP: rs886041390
rs886041390
FUS
5 0.827 0.080 16 31191431 missense variant C/T snv 4.0E-06 0.100 1.000 10 2011 2019
dbSNP: rs121909668
rs121909668
FUS
8 0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05 0.090 1.000 9 2010 2017
dbSNP: rs367543041
rs367543041
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.090 1.000 9 2009 2016
dbSNP: rs121909671
rs121909671
FUS
6 0.851 0.120 16 31191419 missense variant G/A;T snv 4.0E-06 0.080 1.000 8 2010 2017
dbSNP: rs3849942
rs3849942
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.870 1.000 8 2009 2018
dbSNP: rs387906627
rs387906627
FUS
2 0.925 0.080 16 31191052 stop gained C/T snv 8.1E-06 0.080 1.000 8 2010 2018
dbSNP: rs267606929
rs267606929
5 0.827 0.120 10 13132098 missense variant A/G snv 0.070 1.000 7 2011 2018
dbSNP: rs74315452
rs74315452
12 0.732 0.160 21 31667356 missense variant T/C snv 0.070 1.000 7 1997 2015
dbSNP: rs80356733
rs80356733
7 0.790 0.200 1 11022451 missense variant G/T snv 0.070 1.000 7 2008 2019
dbSNP: rs2275294
rs2275294
3 0.925 0.080 20 63962894 intron variant G/A snv 0.25 0.060 0.833 6 2011 2018
dbSNP: rs2814707
rs2814707
4 0.882 0.120 9 27536399 non coding transcript exon variant C/G;T snv 0.830 1.000 6 2009 2014