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: rs121913250
rs121913250
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.710 1.000 6 2000 2012
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.810 1.000 3 2007 2014
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.810 1.000 3 2007 2014
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2016 2016
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs121434595
rs121434595
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4553808
rs4553808
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11555293
rs11555293
1 1.000 0.080 4 57110126 missense variant C/T snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121918546
rs121918546
1 1.000 0.080 5 143041855 missense variant A/C;G snv 4.3E-06; 4.3E-06 0.800 1.000 1 2014 2014
dbSNP: rs140461950
rs140461950
1 1.000 0.080 8 122951616 missense variant G/A;T snv 8.8E-05 3.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2006 2019
dbSNP: rs562015640
rs562015640
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.020 1.000 2 2011 2017
dbSNP: rs727504426
rs727504426
CBL
3 0.882 0.320 11 119278508 splice acceptor variant A/G snv 0.700 1.000 4 2009 2012
dbSNP: rs267606706
rs267606706
CBL
9 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs387906666
rs387906666
CBL
5 0.827 0.080 11 119278182 missense variant A/C;G snv 0.710 1.000 1 2015 2015
dbSNP: rs776906066
rs776906066
CBL
1 1.000 0.080 11 119206455 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs121918461
rs121918461
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.800 1.000 25 2001 2016
dbSNP: rs397507510
rs397507510
8 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.810 1.000 22 2003 2017
dbSNP: rs397507520
rs397507520
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.710 1.000 15 2002 2013
dbSNP: rs121918465
rs121918465
7 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.800 1.000 13 2003 2016
dbSNP: rs397507545
rs397507545
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.800 1.000 13 2003 2017
dbSNP: rs121918458
rs121918458
8 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 1.000 12 2002 2013