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: rs121913488
rs121913488
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.740 1.000 22 2001 2019
dbSNP: rs121909646
rs121909646
3 0.882 0.120 13 28018504 missense variant T/A;G snv 0.700 1.000 17 2001 2014
dbSNP: rs121913487
rs121913487
2 0.925 0.120 13 28018503 missense variant A/C;T snv 0.800 1.000 15 2001 2014
dbSNP: rs121913503
rs121913503
23 0.689 0.200 15 90088606 missense variant C/A;T snv 0.720 1.000 12 2010 2016
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.100 1.000 11 1998 2019
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.100 1.000 11 1998 2019
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.740 1.000 10 2009 2016
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: rs121913232
rs121913232
2 0.925 0.120 13 28018500 missense variant G/C snv 0.710 1.000 9 2003 2014
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.710 1.000 7 1987 2016
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: rs121913514
rs121913514
KIT
12 0.763 0.240 4 54733174 missense variant T/A;G snv 0.750 1.000 6 2006 2013
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: rs267606870
rs267606870
11 0.763 0.280 15 90088703 missense variant G/A;C snv 0.710 1.000 5 2010 2016
dbSNP: rs28931590
rs28931590
1 1.000 0.040 19 33302164 missense variant T/A snv 0.800 1.000 5 2001 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.800 5 2006 2019
dbSNP: rs1057519736
rs1057519736
13 0.752 0.160 15 90088605 missense variant C/G snv 0.700 1.000 4 2011 2014
dbSNP: rs121912472
rs121912472
2 0.925 0.080 9 5073742 missense variant G/C snv 0.810 1.000 4 2006 2019
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: rs1057519766
rs1057519766
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.720 1.000 3 2013 2016
dbSNP: rs1057519767
rs1057519767
1 1.000 0.040 13 28028205 missense variant T/C snv 0.700 1.000 3 2012 2014