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: rs1057519802
rs1057519802
2 5 150061765 missense variant A/C snv 0.700 1.000 1 2009 2009
dbSNP: rs1057520014
rs1057520014
1 5 150073480 missense variant C/A snv 0.700 1.000 1 1990 1990
dbSNP: rs121913390
rs121913390
2 5 150073481 stop gained A/G;T snv 0.700 1.000 1 1990 1990
dbSNP: rs121913393
rs121913393
2 5 150054083 missense variant A/G snv 0.700 1.000 1 1990 1990
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 1.000 1 2006 2006
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.700 1.000 1 2001 2001
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1801271
rs1801271
2 5 150054082 missense variant T/A;C snv 0.700 1.000 1 1990 1990
dbSNP: rs267606706
rs267606706
CBL
9 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs387906664
rs387906664
CBL
2 1.000 11 119278220 missense variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs724159945
rs724159945
3 1.000 12 11885968 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs724159946
rs724159946
3 1.000 12 11884541 missense variant G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs724159947
rs724159947
6 0.851 0.120 12 11869601 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2009 2014
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 0.500 2 2012 2015
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2012 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2016 2019
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2012 2015
dbSNP: rs104894226
rs104894226
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1057519766
rs1057519766
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057520009
rs1057520009
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs1114167651
rs1114167651
2 1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs11536889
rs11536889
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 1.000 1 2017 2017