Source: ALL
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: rs121918461
rs121918461
PTPN11
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.800 1.000 25 2001 2016
dbSNP: rs397507510
rs397507510
PTPN11
8 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.810 1.000 22 2003 2017
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.710 1.000 15 2002 2013
dbSNP: rs121918465
rs121918465
PTPN11
7 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.800 1.000 13 2003 2016
dbSNP: rs397507545
rs397507545
PTPN11
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
PTPN11
8 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 1.000 12 2002 2013
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.820 1.000 10 2005 2019
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.870 1.000 10 2003 2019
dbSNP: rs121918460
rs121918460
PTPN11
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 8 2002 2012
dbSNP: rs121918453
rs121918453
PTPN11
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.800 1.000 7 2003 2016
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.710 1.000 6 2000 2012
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: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2006 2019
dbSNP: rs121434596
rs121434596
NRAS
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
NRAS
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: rs121918454
rs121918454
PTPN11
17 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.800 1.000 3 2003 2016
dbSNP: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.730 1.000 3 2004 2014
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.810 1.000 2 2007 2012
dbSNP: rs397507511
rs397507511
PTPN11
3 0.882 0.240 12 112450385 missense variant G/A;C snv 0.800 1.000 2 2003 2016
dbSNP: rs397507546
rs397507546
PTPN11
9 0.790 0.360 12 112489084 missense variant G/A;C;T snv 0.700 1.000 2 2003 2016
dbSNP: rs562015640
rs562015640
PTEN
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.020 1.000 2 2011 2017
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2016 2016
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: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2016 2016
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.810 1.000 1 2015 2015