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 0.947 19 2001 2015
dbSNP: rs1475170339
rs1475170339
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.030 1.000 3 2002 2007
dbSNP: rs121912443
rs121912443
15 0.732 0.160 21 31663857 missense variant A/G snv 0.020 1.000 2 2001 2005
dbSNP: rs1426039367
rs1426039367
2 0.925 0.080 5 132073916 synonymous variant G/A snv 7.0E-06 0.020 1.000 2 2001 2005
dbSNP: rs762060740
rs762060740
6 0.827 0.080 17 44915083 missense variant G/C snv 4.0E-06 0.020 1.000 2 2008 2011
dbSNP: rs1171108843
rs1171108843
2 0.925 0.040 11 65079421 stop lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs121909342
rs121909342
5 0.827 0.200 2 74378104 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs121909671
rs121909671
FUS
6 0.851 0.120 16 31191419 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121912431
rs121912431
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1279258206
rs1279258206
2 0.925 0.080 11 119420222 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1284398161
rs1284398161
1 1.000 15 66485125 missense variant T/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1355231200
rs1355231200
2 0.925 0.080 14 92931340 frameshift variant C/- delins 0.010 1.000 1 2010 2010
dbSNP: rs1365988292
rs1365988292
2 0.925 0.080 16 31261756 synonymous variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1394871648
rs1394871648
1 1.000 2 201761816 missense variant C/T snv 4.1E-06 0.010 1.000 1 2009 2009
dbSNP: rs141818899
rs141818899
1 1.000 2 70087836 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs199714029
rs199714029
2 0.925 0.040 9 134886483 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs387907264
rs387907264
5 0.851 0.080 17 4946742 missense variant A/C snv 0.010 1.000 1 2017 2017
dbSNP: rs759299980
rs759299980
1 1.000 10 95341599 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs763459583
rs763459583
3 0.882 0.080 17 45987045 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs781978795
rs781978795
2 0.925 0.080 11 14968884 missense variant C/G snv 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs80356733
rs80356733
7 0.790 0.200 1 11022451 missense variant G/T snv 0.010 1.000 1 2012 2012