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: rs1064795104
rs1064795104
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1057516030
rs1057516030
14 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
dbSNP: rs1057518944
rs1057518944
9 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
dbSNP: rs1085307132
rs1085307132
5 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
dbSNP: rs121909574
rs121909574
17 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 0
dbSNP: rs132630297
rs132630297
6 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0
dbSNP: rs1555706928
rs1555706928
8 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
dbSNP: rs1565286228
rs1565286228
6 0.807 0.200 11 61766173 frameshift variant GCACCGGGCCCCCCATC/T delins 0.700 0
dbSNP: rs1565308384
rs1565308384
5 0.827 0.200 11 61784321 frameshift variant -/A delins 0.700 0
dbSNP: rs1569309484
rs1569309484
13 0.807 0.200 X 74591586 missense variant A/G snv 0.700 0
dbSNP: rs1569509136
rs1569509136
24 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
dbSNP: rs180177135
rs180177135
27 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
dbSNP: rs199469465
rs199469465
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs200750564
rs200750564
6 0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs523349
rs523349
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.050 1.000 5 2005 2017
dbSNP: rs7063116
rs7063116
2 0.925 0.120 X 50492002 intergenic variant G/A snv 0.39 0.030 1.000 3 2011 2019
dbSNP: rs1934179
rs1934179
2 0.925 0.120 X 50439186 intron variant G/A snv 0.46 0.020 1.000 2 2011 2015
dbSNP: rs4919686
rs4919686
4 0.851 0.200 10 102832492 3 prime UTR variant A/C snv 0.23 0.21 0.020 1.000 2 2012 2019
dbSNP: rs5000770
rs5000770
3 0.882 0.160 15 80424141 intron variant G/A snv 0.27 0.020 1.000 2 2012 2012
dbSNP: rs9332967
rs9332967
7 0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 0.020 1.000 2 2017 2019
dbSNP: rs1020397
rs1020397
3 0.882 0.160 15 80426396 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1037084691
rs1037084691
WT1
5 0.827 0.160 11 32392031 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1057517779
rs1057517779
4 0.851 0.160 9 124493083 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1064794281
rs1064794281
2 0.925 0.120 9 124500125 missense variant A/T snv 0.010 1.000 1 2011 2011