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: rs121918546
rs121918546
ARHGAP26
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: rs387906666
rs387906666
CBL
5 0.827 0.080 11 119278182 missense variant A/C;G snv 0.710 1.000 1 2015 2015
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.700 0
dbSNP: rs137854550
rs137854550
NF1
10 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 0
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: 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: rs397507505
rs397507505
PTPN11
5 0.827 0.240 12 112450352 missense variant A/C;G;T snv 0.700 0
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: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
14 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
dbSNP: rs267606602
rs267606602
NF1
2 0.925 0.160 17 31221842 splice region variant A/G snv 0.700 0
dbSNP: rs28933386
rs28933386
PTPN11
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs397507547
rs397507547
PTPN11
14 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 0
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: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs397507506
rs397507506
PTPN11
6 0.807 0.240 12 112450354 missense variant C/A;G snv 0.700 0
dbSNP: rs772295894
rs772295894
NF1
7 0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06 0.700 0
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: 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: 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: 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: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.810 1.000 1 2015 2015