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: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.900 0.947 27 2005 2016
dbSNP: rs121913506
rs121913506
KIT
20 0.692 0.286 4 54733154 missense variant G/A,C,T snp 0.810 1.000 7 1994 2013
dbSNP: rs121913487
rs121913487
2 0.923 0.107 13 28018503 stop gained A/C,T snp 0.800 15 2001 2015
dbSNP: rs121912472
rs121912472
2 1.000 0.036 9 5073742 missense variant G/C snp 0.800 1 2006 2006
dbSNP: rs28931590
rs28931590
2 1.000 0.036 19 33302164 missense variant T/A snp 0.800 1 2001 2001
dbSNP: rs121913488
rs121913488
7 0.821 0.107 13 28018505 stop gained C/A,G,T snp 0.740 1.000 24 2001 2016
dbSNP: rs121913502
rs121913502
15 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.740 1.000 13 2010 2016
dbSNP: rs147001633
rs147001633
6 0.846 0.143 2 25234373 missense variant C/A,G,T snp 4.0E-06; 4.0E-06; 2.2E-04 0.740 1.000 9 2010 2016
dbSNP: rs121913514
rs121913514
KIT
9 0.784 0.214 4 54733174 stop gained T/A,G snp 0.740 1.000 5 2006 2013
dbSNP: rs121913237
rs121913237
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.730 1.000 12 1988 2016
dbSNP: rs121913499
rs121913499
34 0.630 0.464 2 208248389 missense variant G/A,C,T snp 0.720 1.000 9 2009 2016
dbSNP: rs387906631
rs387906631
5 0.923 0.071 3 128481901 missense variant G/A snp 0.720 1.000 3 2011 2012
dbSNP: rs121913503
rs121913503
17 0.724 0.179 15 90088606 missense variant C/A,T snp 0.710 1.000 12 2010 2016
dbSNP: rs121913232
rs121913232
2 0.923 0.107 13 28018500 missense variant G/C snp 0.710 1.000 9 2003 2015
dbSNP: rs121913500
rs121913500
42 0.615 0.464 2 208248388 missense variant C/A,G,T snp 4.0E-06 0.710 1.000 8 2009 2016
dbSNP: rs11554290
rs11554290
36 0.618 0.464 1 114713908 missense variant T/A,C,G snp 0.710 1.000 7 1988 2016
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.710 1.000 6 1988 2016
dbSNP: rs121912651
rs121912651
41 0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06 0.710 1.000 4 2010 2016
dbSNP: rs376588714
rs376588714
1 1.000 0.036 13 28018483 missense variant T/C snp 2.4E-05 0.710 1.000 4 2005 2015
dbSNP: rs121909646
rs121909646
3 0.878 0.107 13 28018504 stop lost T/A,G snp 0.700 18 2001 2015
dbSNP: rs1057519726
rs1057519726
1 1.000 0.036 13 28018502 missense variant T/A,C,G snp 0.700 9 2005 2013
dbSNP: rs377577594
rs377577594
4 0.878 0.107 2 25234374 missense variant G/A,C,T snp 1.2E-04; 8.0E-06 0.700 8 2010 2016
dbSNP: rs121913250
rs121913250
14 0.724 0.286 1 114716127 missense variant C/A,G,T snp 0.700 7 1988 2016
dbSNP: rs1057519745
rs1057519745
WT1
1 1.000 0.036 11 32396363 frameshift variant C/CACCGTACA in-del 0.700 6 2014 2015
dbSNP: rs17851045
rs17851045
20 0.679 0.357 12 25227341 missense variant T/A,G snp 4.0E-06 0.700 6 1988 2016