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: rs1057520026
rs1057520026
2 0.925 0.040 13 28028244 missense variant T/G snv 0.710 1.000 1 2006 2006
dbSNP: rs121909646
rs121909646
3 0.882 0.120 13 28018504 missense variant T/A;G snv 0.700 1.000 17 2001 2014
dbSNP: rs1057519726
rs1057519726
1 1.000 0.040 13 28018502 missense variant T/A;C;G snv 0.700 1.000 9 2005 2013
dbSNP: rs121913250
rs121913250
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 7 1987 2016
dbSNP: rs1057519745
rs1057519745
WT1
1 1.000 0.040 11 32396363 frameshift variant -/ACCGTACA ins 0.700 1.000 6 2014 2014
dbSNP: rs17851045
rs17851045
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.700 1.000 6 1987 2016
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.700 1.000 5 1987 2012
dbSNP: rs1057519736
rs1057519736
13 0.752 0.160 15 90088605 missense variant C/G snv 0.700 1.000 4 2011 2014
dbSNP: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 4 2014 2016
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 4 2014 2016
dbSNP: rs371769427
rs371769427
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.700 1.000 4 2011 2016
dbSNP: rs104894366
rs104894366
9 0.776 0.400 12 25245284 missense variant G/A;C snv 0.700 1.000 3 2006 2014
dbSNP: rs1057519747
rs1057519747
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 3 2014 2014
dbSNP: rs1057519749
rs1057519749
1 1.000 0.040 21 34880579 missense variant C/A;G snv 0.700 1.000 3 2014 2014
dbSNP: rs1057519762
rs1057519762
1 1.000 0.040 13 28018484 missense variant A/G snv 0.700 1.000 3 2012 2014
dbSNP: rs1057519765
rs1057519765
1 1.000 0.040 13 28027236 missense variant T/A;C snv 4.0E-06 0.700 1.000 3 2012 2014
dbSNP: rs1057519767
rs1057519767
1 1.000 0.040 13 28028205 missense variant T/C snv 0.700 1.000 3 2012 2014
dbSNP: rs1057519768
rs1057519768
1 1.000 0.040 13 28028279 missense variant T/C snv 0.700 1.000 3 2012 2014
dbSNP: rs1057519769
rs1057519769
1 1.000 0.040 13 28033974 missense variant C/A snv 0.700 1.000 3 2012 2014
dbSNP: rs121912666
rs121912666
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.700 1.000 3 2014 2014
dbSNP: rs587782329
rs587782329
23 0.677 0.280 17 7674217 missense variant C/A;G;T snv 0.700 1.000 3 2014 2014
dbSNP: rs1057519709
rs1057519709
KIT
2 0.925 0.080 4 54733154 missense variant GA/AT mnv 0.700 1.000 2 2009 2013
dbSNP: rs1057519750
rs1057519750
1 1.000 0.040 21 34880580 missense variant C/T snv 0.700 1.000 2 2009 2014
dbSNP: rs1057519753
rs1057519753
9 0.763 0.120 1 64846664 missense variant C/A snv 0.700 1.000 2 2011 2011
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 2009 2016