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: rs1057519745
rs1057519745
WT1
1 1.000 0.040 11 32396363 frameshift variant -/ACCGTACA ins 0.700 1.000 6 2014 2014
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 < 0.001 2 2012 2016
dbSNP: rs137852732
rs137852732
1 1.000 0.040 19 33302095 frameshift variant -/CA delins 0.700 0
dbSNP: rs762890562
rs762890562
2 0.925 0.040 5 177515944 stop gained -/CATC delins 8.7E-05 7.0E-05 0.700 0
dbSNP: rs1057519744
rs1057519744
1 1.000 0.040 5 171410542 frameshift variant -/CATG;CCTG;TCAG;TCTG ins 0.700 1.000 1 2009 2009
dbSNP: rs1554138188
rs1554138188
1 1.000 0.040 5 171410541 frameshift variant -/CATG;CGTG delins 0.700 0
dbSNP: rs606231202
rs606231202
1 1.000 0.040 12 25245355 inframe insertion -/CCA delins 0.700 0
dbSNP: rs587776849
rs587776849
1 1.000 0.040 19 33302200 frameshift variant -/CCGG delins 0.700 0
dbSNP: rs1554138189
rs1554138189
1 1.000 0.040 5 171410540 frameshift variant -/CCTG delins 0.700 0
dbSNP: rs1178981336
rs1178981336
2 1.000 0.040 9 113424228 frameshift variant -/G delins 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs137852733
rs137852733
1 1.000 0.040 19 33302197 frameshift variant -/G ins 0.700 0
dbSNP: rs1555742295
rs1555742295
1 1.000 0.040 19 33302295 frameshift variant -/G delins 0.700 0
dbSNP: rs1555741967
rs1555741967
1 1.000 0.040 19 33301463 inframe insertion -/GCTCCAGCACCTTCTGCTGCGTCTCCA delins 0.700 0
dbSNP: rs587776710
rs587776710
1 1.000 0.040 12 11890994 protein altering variant -/GGG ins 0.700 0
dbSNP: rs137852731
rs137852731
1 1.000 0.040 19 33302213 frameshift variant -/TAGG delins 0.700 0
dbSNP: rs398122514
rs398122514
1 1.000 0.040 13 28018487 inframe insertion -/TCCGGA delins 4.0E-06 0.700 0
dbSNP: rs587776806
rs587776806
1 1.000 0.040 5 171410539 frameshift variant -/TCTG delins 0.700 0
dbSNP: rs1555741948
rs1555741948
1 1.000 0.040 19 33301423 inframe insertion -/TTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTG delins 0.700 0
dbSNP: rs1562206791
rs1562206791
2 0.925 0.080 5 177210250 frameshift variant A/- delins 0.700 0
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.030 1.000 3 2009 2015
dbSNP: rs10062083
rs10062083
1 1.000 0.040 5 9130861 intron variant A/C snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs10063061
rs10063061
1 1.000 0.040 5 126608051 intron variant A/C snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs10092799
rs10092799
1 1.000 0.040 8 13757626 intergenic variant A/C snv 8.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs10094221
rs10094221
1 1.000 0.040 8 93155425 intron variant A/C snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs10166710
rs10166710
1 1.000 0.040 2 187684313 regulatory region variant A/C snv 4.7E-02 0.700 1.000 1 2017 2017