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 snp 0.700 1 2009 2009
dbSNP: rs1057520014
rs1057520014
1 5 150073480 missense variant C/A snp 0.700 1 1990 1990
dbSNP: rs121913390
rs121913390
2 5 150073481 stop gained A/G,T snp 0.700 1 1990 1990
dbSNP: rs121913393
rs121913393
2 5 150054083 missense variant A/G snp 0.700 1 1990 1990
dbSNP: rs121913506
rs121913506
KIT
20 0.692 0.286 4 54733154 missense variant G/A,C,T snp 0.700 1 2006 2006
dbSNP: rs121913512
rs121913512
KIT
8 0.846 0.107 4 54728055 missense variant A/C,G snp 0.700 1 2001 2001
dbSNP: rs121913615
rs121913615
MPL
15 0.734 0.179 1 43349338 missense variant G/C,T snp 8.0E-06 0.700 1 2007 2007
dbSNP: rs1801271
rs1801271
2 5 150054082 missense variant T/A,C snp 0.700 1 1990 1990
dbSNP: rs267606706
rs267606706
CBL
3 0.923 0.036 11 119278181 missense variant T/A,C snp 8.0E-06 0.700 1 2013 2013
dbSNP: rs387906664
rs387906664
CBL
2 1.000 11 119278220 missense variant T/C,G snp 0.700 1 2013 2013
dbSNP: rs724159945
rs724159945
2 1.000 12 11885968 stop gained C/A,T snp 0.700 1 2015 2015
dbSNP: rs724159946
rs724159946
2 1.000 12 11884541 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs724159947
rs724159947
4 0.923 0.107 12 11869601 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.030 1.000 3 2009 2014
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.020 0.500 2 2013 2015
dbSNP: rs104894226
rs104894226
19 0.692 0.464 11 534285 missense variant C/A,G,T snp 0.010 1.000 1 2007 2007
dbSNP: rs104894230
rs104894230
42 0.615 0.464 11 534288 missense variant C/A,G,T snp 0.010 1.000 1 2007 2007
dbSNP: rs112445441
rs112445441
17 0.699 0.286 12 25245347 missense variant snp 0.010 1.000 1 2007 2007
dbSNP: rs121434596
rs121434596
18 0.707 0.357 1 114716123 missense variant C/A,G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121913237
rs121913237
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs13347
rs13347
6 0.821 0.107 11 35231725 3 prime UTR variant C/A,T snp 3.2E-05; 0.34 0.010 1.000 1 2015 2015
dbSNP: rs148704956
rs148704956
10 0.769 0.107 6 52187772 missense variant A/G snp 8.0E-06 3.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs1799782
rs1799782
84 0.523 0.607 19 43553422 stop gained G/A snp 9.5E-02 7.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.010 1.000 1 2015 2015